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SCN1A affects DHPS
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SCN1A activates DHPS.
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Mutated SCN1A activates DHPS. 9 / 9
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"Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage gated sodium channel."
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"Ser487GlufsTer6) adds to the spectrum of SCN1A mutations causing DS."
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"DS is most frequently caused by various mutations of the SCN1A gene encoding the subunit 1 of the neuronal voltage gated sodium channel [XREF_BIBR]."
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"SCN1A Mutations cause DS."
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"Dravet syndrome (DS), a devastating epileptic encephalopathy, is mostly caused by mutations of the SCN1A gene, coding for the voltage gated Na (+) channel Na (V) 1.1 alpha subunit."
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"XREF_BIBR reported in 2001 that SCN1A mutations caused DS, it has been found that 70-80% of DS cases are caused by mutations in SCN1A."
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"In a cohort of 10 adult patients with DS caused by SCN1A mutations, we investigated seizure frequency, history of cSE, and gait."
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"Previous studies have shown that truncated mutations of SCN1A cause DS, the severest phenotype in genetic epilepsy due to sodium channel defects."
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"Dravet syndrome (DS) is caused by dominant mutations of the SCN1A gene, encoding the NaV 1.1 sodium channel alpha subunit."
SCN1A activates DHPS. 7 / 7
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"In 85% of cases, DS is caused by mutations in the SCN1A gene, resulting in loss of function of the type I voltage gated sodium channel (Na v 1.1)."
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"In approximately 60-80% of patients, DS is caused by a mutation in SCN1A, the gene encoding the alpha-subunit of the voltage gated sodium channel NaV1.1 whose function contributes to the rising phase of the action potential (Bender etal."
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"Broadly, SCN1A haploinsufficiency tends to cause DS as does SCN1B loss-of-function, however somewhat more tenuously."
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"Haploinsufficiency of the SCN1A gene encoding voltage gated sodium channel Na V 1.1 causes Dravet Syndrome (DS), a childhood neuropsychiatric disorder including recurrent intractable seizures, cognitive deficit, and autism-spectrum behaviors."
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"Rare mutations in SCN1A cause a wide spectrum of epilepsy syndromes, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, also known as severe myoclonic epilepsy of infancy) 5, depending on the nature of the mutation and possible genetic modifiers on other genes 30."
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"In more than 70% of cases, DS is caused by de novo mutations in the SCN1A gene which encodes the alpha subunit of the neuronal voltage gated sodium channel Na v 1.1 XREF_BIBR, XREF_BIBR."
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"Mouse models of DS have been generated by targeted deletion of mouse Scn1a and knock-in of a human SCN1A premature truncation mutation causing DS XREF_BIBR, XREF_BIBR."
SCN1A inhibits DHPS.
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SCN1A inhibits DHPS. 4 / 4
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"Our data present a case of Dravet syndrome caused by a novel heterozygous SCN1A deletion (c. 1458_1465delCTCTAAGT) in two affected siblings."
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"Moreover, our results show that mutation of one allele of Scn1a also dramatically impairs sleep homeostasis in DS mice, as assessed from the large reduction in the rebound of slow wave activity after sleep deprivation."
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"DS is caused by heterozygous loss-of-function mutations in the SCN1A gene 7, which encodes the pore forming alpha-subunit of the brain voltage gated sodium channel type-1 (Na V 1.1) 8."
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"DS is caused by heterozygous loss-of- function mutations in the SCN1A gene, which encodes the pore forming alpha subunit of the voltage gated sodium channel Nav1.1."
Mutated SCN1A inhibits DHPS. 2 / 2
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"DS, the more severe disorder, is often caused by loss-of-function SCN1A mutations, while GEFS+ results from subtle changes in the biophysical properties of Na v 1.1 channels."
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"Loss-of-function SCN1A mutations cause DS, a debilitating form of epilepsy characterized by complex febrile seizures in the first year of life, partial and/or generalized afebrile epilepsy, intellectual disability, and ataxia."
SCN1A binds DHPS.
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sparser
"The primary defect in DS associated with SCN1A mutations is loss of Na V 1.1 function owing to truncating mutations, non-truncating alleles that confer impaired trafficking, or other potential mechanisms."
sparser
"The increase in lifespan and seizure thresholds is consistent with our previous results examining the interactions between theScn8a medjo and GEFS+ or DS Scn1a mutants ( xref ; xref )."
sparser
"Previous studies of several SCN1A mutants associated with GEFS+ and DS ( xref , xref , xref ) showed increased persistent current which may be a contributing factor to the complex epileptic phenotypes."
sparser
"To summarize, there is a strong association of SCN1A mutations with DS, and the evidence suggests a relationship between the location and type of SCN1A mutation and the severity of the epilepsy phenotype."
sparser
"Phenotypically, early infantile SCN1A encephalopathy is associated with more profound developmental impairments than DS; all patients included in the study were nonambulatory, and the majority required feeding tubes."
SCN1A affects pyraclofos
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SCN1A activates pyraclofos.
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"Dravet Syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the subunit of the NaV1.1 voltage gated sodium channel that controls neuronal action potential firing."
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"Dravet Syndrome is a severe childhood epileptic disorder caused by haploinsufficiency of the SCN1A gene encoding brain voltage gated sodium channel Na V 1.1."
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"In the majority (80%) of cases, Dravet Syndrome is caused by mutations in the SCN1A gene, encoding the voltage gated sodium channel Na V 1.1, which is abundant in the central nervous system."
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"We studied a mouse model of Dravet syndrome, a severe childhood epilepsy caused by mutations in the human SCN1A gene encoding the voltage gated sodium channel subunit Na v 1.1."
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"BackgroundDravet syndrome, a severe childhood epilepsy characterized by persistent, often drug resistant seizures and progressive developmental delay is known to be caused by mutations in the SCN1A gene encoding the voltage gated sodium channel subunit alpha NA V 1.1."
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"XREF_BIBR In at least 70% of children, Dravet syndrome is caused by a heterozygous mutation in the SCN1A gene, XREF_BIBR, XREF_BIBR encoding the alpha-subunit of the neuronal voltage gated sodium channel."
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"Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage gated sodium channel."
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"It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage gated sodium channel alpha-subunit (NaV1.1), and GABRA1 gene, encoding the alpha1 subunit of the gamma-aminobutyric acid type A (GABA A) receptor, while seldom related with SCN9A gene, encoding the voltage gated sodium channel NaV1.7."
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"Dravet syndrome is a rare developmental epilepsy syndrome caused by autosomal dominant mutations in the SCN1A gene encoding the voltage gated sodium channel NaV1.1, and is characterized by intractable epilepsy, ID, and autism."
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"Dravet syndrome is a severe epileptic encephalopathy mainly caused by heterozygous mutations in the SCN1A gene encoding a voltage gated sodium channel Nav1.1."
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"Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the alpha subunit of the NaV1.1 voltage gated sodium channel that controls neuronal action potential firing."
Mutated SCN1A activates pyraclofos. 2 / 2
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"DS is an autosomal dominant disease that is mainly caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage gated sodium channel [XREF_BIBR]."
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"Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage gated sodium channel."
SCN1A decreases the amount of pyraclofos.
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Mutated SCN1A decreases the amount of pyraclofos. 1 / 1
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"Dravet syndrome is a severe infant-onset epileptic encephalopathy most often caused by de novo mutation of SCN1A resulting in heterozygous loss-of-function of the Nav1.1 voltage gated sodium channel 1."
SCN1A affects sodium(1+)
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SCN1A inhibits sodium(1+).
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Mutated SCN1A inhibits sodium(1+). 4 / 4
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"In addition, the model experiment of gene knockout mice for simulating human channel diseases has verified that SCN1A mutation causes reduced expression level of sodium channel subtype Nav1.1, leading to decreased excitatory of inhibitory neurons, functional decline in inhibitory loop and increased neuronal excitability, which are necessary for the onset of epileptic seizures [XREF_BIBR]."
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"Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients."
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"These results suggest that this SCN1A mutation predominantly impairs sodium channel activity in interneurons, leading to decreased inhibition."
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"SCN1A mutations have been proposed to preferentially impair the sodium channel activity of GABAergic interneurons, diminishing their activity [XREF_BIBR]."
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"Lower levels of SCN1A, SCN2A, SCN3A, SCN4A and SCN8A expression have also been reported in heart and shown to contribute approximately 23% of the total functional sodium channels in mouse ventricular myocytes and 27% in human atrial myocytes, based on TTX sensitivity."
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"It is caused by loss-of-function mutations in the gene SCN1A encoding brain sodium channel Nav1.1, which specifically impair action potential firing by GABAergic inhibitory interneurons and disinhibit neural circuits in the brain."
SCN1A activates sodium(1+).
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"Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the SCN1A gene encoding voltage gated sodium channel Na v 1.1."
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"The mismatch was first noted when hemizygous reduction of the Scn1a subunit was found to dramatically reduce sodium current in mouse interneurons, while sparing pyramidal neurons, despite apparently equivalent levels of gene expression."
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"Three recognized sodium channel gene EEs are caused by mutations in SCN8A, SCN1A (Dravet syndrome), SCN2A, and SCN8A."
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"Scn1a can enhance persistent inward sodium currents, and recent studies indicate that a mutation in this gene might play a role in migraine development and in epilepsy [XREF_BIBR, XREF_BIBR]."
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"SCN1A loss-of-function impairs sodium currents and spiking in hippocampal GABAergic interneurons, without a detectable effect on excitatory pyramidal neurons."
Mutated SCN1A activates sodium(1+). 1 / 1
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"The two novel SCN1A mutations located in the voltage sensing S4 segment of domain II, R859H and R865G, both produced functional sodium channels and were further examined."
SCN1A increases the amount of sodium(1+).
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SCN1A increases the amount of sodium(1+). 1 / 1
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"Voltage-gated Na1 channels (NaV channels) drive the rapid upstroke of action potentials in cardiac and skeletal muscle and in most neurons, thereby serving as initiators of electrical activity in excitable tissue. Nine genes encode a family of homologous of NaV channel pore-forming a subunits. While channels are open, Na1 ions flux through the central pore down an electrochemical gradient, further depolarizing the membrane and triggering an action potential."
DHPS affects SCN1A
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DHPS binds SCN1A.
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sparser
"The primary defect in DS associated with SCN1A mutations is loss of Na V 1.1 function owing to truncating mutations, non-truncating alleles that confer impaired trafficking, or other potential mechanisms."
sparser
"The increase in lifespan and seizure thresholds is consistent with our previous results examining the interactions between theScn8a medjo and GEFS+ or DS Scn1a mutants ( xref ; xref )."
sparser
"Previous studies of several SCN1A mutants associated with GEFS+ and DS ( xref , xref , xref ) showed increased persistent current which may be a contributing factor to the complex epileptic phenotypes."
sparser
"To summarize, there is a strong association of SCN1A mutations with DS, and the evidence suggests a relationship between the location and type of SCN1A mutation and the severity of the epilepsy phenotype."
sparser
"Phenotypically, early infantile SCN1A encephalopathy is associated with more profound developmental impairments than DS; all patients included in the study were nonambulatory, and the majority required feeding tubes."
DHPS activates SCN1A.
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DHPS activates mutated SCN1A. 2 / 2
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"Previous studies have shown that truncated mutations of SCN1A cause DS, the severest phenotype in genetic epilepsy due to sodium channel defects."
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"6 It has been suggested that DS causing SCN1A mutations reduce the activity of cortical inhibitory networks, with the resultant imbalance of neuronal activity leading to seizures."
DHPS activates SCN1A. 1 / 1
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"Together these findings suggest that the circadian and sleep physiology defects in DS mice may be caused by distinct functional impairments arising from the deletion of Na V 1.1 channels in different neuronal populations.In a recent study, Papale et al. (2013) characterized sleep abnormality in a mouse model of GEFS + expressing the R1649H mutation in one allele of Scn1a."
DHPS inhibits SCN1A.
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DHPS inhibits SCN1A. 1 / 1
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"Here we will review the preclinical animal models for DS featuring inactivation of SCN1A (including zebrafish and mice) with an emphasis on seizure phenotypes and behavioral comorbidities."
SCN1A affects sodium atom
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SCN1A activates sodium atom.
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"Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the alpha1 subunit of the voltage gated sodium channel Na v 1.1."
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"Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the SCN1A gene encoding voltage gated sodium channel Na v 1.1."
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"SCN1A haploinsufficiency producing Na V 1.1 dysfunction mainly affects GABAergic neurons."
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"Scn1a null mice have increased Na v 1.3 expression in the hippocampus [XREF_BIBR]."
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"Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the alpha-subunit of the voltage gated sodium channel Na v 1.1."
SCN1A inhibits sodium atom.
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Mutated SCN1A inhibits sodium atom. 2 / 2
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"SCN1A provide instructions for making alpha subunit of a sodium channel called Nav1.1, and a recent study suggested that milder phenotypes of SCN1A mutation can cause lesser impairment of Na + channel function leading to reduced Na + currents in GABAergic inhibitory interneuron or electrical network hyperexcitability in patients with these mutations."
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"Animal studies have revealed that SCN1A mutations causing loss of function of Na v 1.1 impair the firing of GABAergic neurons compared to pyramidal cells."
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"Scn1a +/- mice have reduced Na + currents and impaired action potential firing in hippocampal interneurons and cerebellar Purkinje neurons XREF_BIBR, XREF_BIBR, which are GABAergic neurons."
SCN1A affects GADD45GIP1
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SCN1A decreases the amount of GADD45GIP1.
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SCN1A decreases the amount of GADD45GIP1. 4 / 4
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"In the current report and our previous study, we have demonstrated that NAC-1 proteins negatively regulate the expression of Gadd45gip1 (Crif1) and Gadd45gamma."
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"In summary, NAC-1 contributes to tumor growth and survival by at least inhibiting Gadd45GIP1 expression, which has a tumor suppressor effect in cancer cells."
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"NAC-1 knockdown in both SKOV3 and HeLa cells that expressed abundant endogenous NAC-1 induced Gadd45GIP1 expression transcriptionally; on the other hand, engineered expression of NAC-1 in NAC-1-negative RK3E and HEK293 cells suppressed endogenous Gadd45GIP1 expression."
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"For example, NAC-1, a BTB/POZ protein, repressed transcription of the CKbetaBP2 and CRIF1 gene."
SCN1A inhibits GADD45GIP1.
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"In addition to the established NF-kappaB-Gadd45 molecular circuit, downregulation of Gadd45gip1 by NAC-1 overexpression represents another molecular switch to suppress Gadd45 death signals."
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"Ectopic expression of NAC-1 or knockdown of Gadd45gip1 conferred paclitaxel resistance, whereas NAC-1 knockdown or ectopic expression of Gadd45gip1 increased paclitaxel sensitivity."
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"Ectopic expression of NAC-1 or knockdown of Gadd45gip1 conferred paclitaxel resistance, while NAC-1 knockdown or ectopic expression of Gadd45gip1 increased paclitaxel sensitivity."
SCN1A increases the amount of GADD45GIP1.
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Modified SCN1A increases the amount of GADD45GIP1. 1 / 1
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"NAC-1 knockdown in both SKOV3 and HeLa cells that expressed abundant endogenous NAC-1 induced Gadd45GIP1 expression transcriptionally; on the other hand, engineered expression of NAC-1 in NAC-1-negative RK3E and HEK293 cells suppressed endogenous Gadd45GIP1 expression."
AAV-NaVbeta1 affects SCN1A
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AAV-NaVbeta1 activates SCN1A.
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AAV-NaVbeta1 activates SCN1A. 7 / 7
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"However, in the AAV-NaVbeta1 treatment groups, Scn1a +/- mice treated with AAV-NaVbeta1 traveled farther than WT mice treated with either AAV-EV or AAV-NaVbeta1 (XREF_FIG; genotype main effect, F 1,62 = 9.32, p < 0.01)."
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"Male Scn1a +/- mice treated with AAV-NaVbeta1 showed reduced spontaneous seizures and normalization of motor activity and performance on the elevated plus maze test."
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"24 In the passive avoidance test, female Scn1a +/- mice treated with AAV-EV or with AAV-NaVbeta1 both displayed reduced latency to crossover compared with WT mice injected with AAV-EV (XREF_FIG; treatment main effect, F 1,46 = 1.90, p < 0.01)."
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"Using the anti-NaVbeta1 antibody, the level of total NaVbeta1 protein in Scn1a +/- mice treated with AAV-NaVbeta1 was 8.3 times higher compared with WT mice treated with AAV-EV (XREF_FIG), whereas using an anti-c-myc antibody to assess transgene generated NaVbeta1 revealed similar levels in WT and Scn1a +/- mice treated with AAV-NaVbeta1 (XREF_FIG)."
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"Survival of Scn1a +/- mice treated with AAV-NaVbeta1."
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"In contrast, WT and Scn1a +/- treated with AAV-NaVbeta1 did not differ in the time spent in the open arms, indicating correction of this endophenotype after treatment with AAV-NaVbeta1 (XREF_FIG; treatment main effect, F 1,62 = 3.66, p < 0.01; genotype main effect, F 1,62 = 8.08, p < 0.01)."
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"In contrast, there was no statistical difference in the frequency of tonic seizures in the female Scn1a +/- mice treated with AAV-NaVbeta1 compared with female Scn1a +/- mice with AAV-EV (XREF_FIG; t = 0.75, p> 0.05)."
AAV-NaVbeta1 inhibits SCN1A.
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AAV-NaVbeta1 inhibits SCN1A. 1 / 1
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"These observations indicate that AAV-NaVbeta1 did not reduce the susceptibility of Scn1a +/- mice to heat induced seizures."
SCN1A affects NAV1
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SCN1A inhibits NAV1.
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SCN1A inhibits NAV1. 2 / 2
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"It is caused by loss-of-function mutations in the gene SCN1A encoding brain sodium channel Nav1.1, which specifically impair action potential firing by GABAergic inhibitory interneurons and disinhibit neural circuits in the brain."
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"XREF_BIBR, XREF_BIBR Notably, conditional Scn1a +/- mice that have reduced Nav1.1 protein only in GABAergic interneurons show an overall phenotype similar to global Scn1a +/- mice."
Mutated SCN1A inhibits NAV1. 1 / 1
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"In addition, the model experiment of gene knockout mice for simulating human channel diseases has verified that SCN1A mutation causes reduced expression level of sodium channel subtype Nav1.1, leading to decreased excitatory of inhibitory neurons, functional decline in inhibitory loop and increased neuronal excitability, which are necessary for the onset of epileptic seizures [XREF_BIBR]."
SCN1A binds NAV1.
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"A recent report of 9 patients with an early profound form of SMEI xref reported one patient with an Nav1.1-p."
sparser
"Mutations of the gene SCN1A (which encodes Nav1.1) in the nervous system have been associated with human inherited epileptic syndromes and familial hemiplegic migraine, suggesting that Nav1.1 might participate in the genesis of migraine ( xref ; xref )."
SCN1A activates NAV1.
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SCN1A activates NAV1. 2 / 2
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"SCN1A haploinsufficiency producing Nav1.1 dysfunction mainly affects GABAergic neurons, which according to the affected site, cortex, cerebellum, basal ganglia, or hypothalamus, are the cause of epileptic seizure, ataxia, crouching gait, thermal dysregulation, and sleep disturbances [XREF_BIBR, XREF_BIBR, XREF_BIBR, XREF_BIBR]."
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"Furthermore, Dravet syndrome, one of the most severe forms of childhood epilepsy, is caused by mutations in SCN1A encoding Nav1.1 [reviewed in], or a mutation in SCN1B encoding Nav channel beta1 subunit."
SCN1A affects SMEI
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SCN1A activates SMEI.
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SCN1A activates SMEI. 3 / 3
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"A redefinition of Dravet syndrome, in view of the genetic origin, may then be possible.In our first publication [4], we speculated that SMEI was only caused by truncating mutations in SCN1A."
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"We speculate that this mutation likely promotes seizure susceptibility and worsens the SMEI phenotype caused primarily by the SCN1A mutation.SCN1A is expressed in GABAergic interneurons, haploinsufficiency of Na v 1.1 channels in inhibitory neurons is the cause of seizures in a model mouse harboring a nonfunctional SCN1A mutation (Yu et al., 2006)."
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"SMEI is caused by mutations in SCN1A encoding Na v 1.1."
Mutated SCN1A activates SMEI. 1 / 1
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"Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations."
SCN1A inhibits SMEI.
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SCN1A inhibits SMEI. 2 / 2
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"Heterozygous Deletion of Scn1a Is Sufficient to Produce Phenotypic Features of SMEI."
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"These results provide evidence that heterozygous deletion of Scn1a is sufficient to produce the key epileptic phenotypic features of SMEI."
SCN1A affects Gadd45gamma
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SCN1A decreases the amount of Gadd45gamma.
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Modified SCN1A decreases the amount of Gadd45gamma. 3 / 3
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"Furthermore, silencing NAC-1 expression or disrupting NAC-1 homodimerization by a dominant negative NAC-1 protein that contained only the BTB/POZ domain induced the expression of Gadd45gamma, which interacted with Gadd45gip1."
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"Thus, the findings based on both NAC-1 knockdown and N130 mut approaches indicated that NAC-1 expression and homodimerization were essential to suppress Gadd45gamma expression."
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"Furthermore, silencing NAC-1 expression or disrupting NAC-1 homodimerization by a dominant negative NAC-1 protein that contained only the BTB/POZ domain induced expression of Gadd45gamma which interacted with Gadd45gip1."
SCN1A decreases the amount of Gadd45gamma. 1 / 1
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"In the current report and our previous study, we have demonstrated that NAC-1 proteins negatively regulate the expression of Gadd45gip1 (Crif1) and Gadd45gamma."
SCN1A increases the amount of Gadd45gamma.
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SCN1A increases the amount of Gadd45gamma. 2 / 2
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"Furthermore, silencing NAC-1 expression or disrupting NAC-1 homodimerization by a dominant negative NAC-1 protein that contained only the BTB/POZ domain induced expression of Gadd45gamma which interacted with Gadd45gip1."
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"Furthermore, silencing NAC-1 expression or disrupting NAC-1 homodimerization by a dominant negative NAC-1 protein that contained only the BTB/POZ domain induced the expression of Gadd45gamma, which interacted with Gadd45gip1."
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sparser
"Furthermore, alternative splicing of a sodium channel gene, SCN1A , has also recently been associated with altered response to antiepileptic medications [ xref ]."
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"Recently, different rescuing approaches have been explored to increase surface expression and restore the correct functioning of sodium channel mutants associated to GEFS+ and SMEI that present folding defects in vitro ( xref )."
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"FEB3 and FEB8 are associated with mutations in the sodium channel ( SCN1A ) and gamma-amino butyric acid (GABA) receptor ( GABRG2 ) genes, respectively, which cause fever-related epileptic syndromes (e.g., generalized epilepsy with FS plus and severe myoclonic epilepsy of infancy)."
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"Sanjay Sisodiya (University College London, UK) presented data showing that mutation of the gene SCN1A , which encodes a sodium channel, is associated with drug-resistant forms of epilepsy."
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"Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of infancy)."
AntagoNAT affects SCN1A
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AntagoNAT activates SCN1A.
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AntagoNAT activates SCN1A. 4 / 4
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"Taken together, our results demonstrate that at least some of the major aspects of Dravet are likely to be caused by persistent SCN1A deficit after birth and can be improved by AntagoNAT mediated upregulation of SCN1A."
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"Overall, these results indicate that AntagoNAT mediated inhibition of SCN1ANAT results in the upregulation of SCN1A regardless of the SCN1A mutation type, thus increasing potential applicability of the AntagoNAT method in the treatment of Dravet syndrome and other diseases caused by de-novo mutations."
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"Taken together, these experiments demonstrated that AntagoNAT mediated increase of Scn1a in adult Dravet mice (Scn1a E1099X/+) can improve spontaneous seizure phenotype."
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"While AntagoNAT treatment upregulated SCN1A, it did not affect> 90% of all expressed genes, including other highly homologous sodium channel subunits and genes immediately adjacent to SCN1A on the chromosome (XREF_FIG; XREF_SUPPLEMENTARY)."
AntagoNAT increases the amount of SCN1A.
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AntagoNAT increases the amount of SCN1A. 1 / 1
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"The increased expression of these genes could occur as a downstream effect of the AntagoNAT mediated increase of SCN1A expression."
Sodium(1+) affects SCN1A
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Sodium(1+) inhibits SCN1A.
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"We conclude that SMEI is caused either by complete loss of SCN1A function, or by dysfunctional sodium channels exhibiting mixed biophysical properties."
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"Identification of a precise genetic etiology can direct physicians to (i) prescribe treatments that correct specific metabolic defects (e.g., the ketogenic diet for GLUT1 deficiency, or pyridoxine for pyridoxine dependent epilepsies); (ii) avoid antiepileptic drugs (AEDs) that can aggravate the pathogenic defect (e.g., sodium channel blocking drugs in SCN1A related Dravet syndrome), or (iii) select AEDs that counteract the functional disturbance caused by the gene mutation (e.g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations)."
Sodium(1+) activates SCN1A.
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"This condition is genetically heterogeneous, with mutations in the KCNT1 gene that codes for a sodium activated potassium channel and mutations in SCN1A both described."
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"By contrast, lamotrigine, a widely used sodium channel blocking antiepileptic drug, caused Scn1a +/- mice to exhibit a higher seizure frequency consistent with observations made in human Dravet syndrome 12."
Clobazam affects SCN1A
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"Following induction of a single hyperthermic seizure, Scn1a +/- mice were subchronically treated with clobazam and stiripentol (160 mg per kg of chow and 4000 mg per kg of chow, respectively)."
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"Following induction of a single, brief thermal seizure, we counted subsequent unprovoked GTCS in Scn1a +/- mice subchronically treated with valproic acid, clobazam, or stiripentol using doses that targeted the human therapeutic range."
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"Scn1a +/- mice treated with clobazam at doses corresponding to the human therapeutic range had an increased temperature threshold for hyperthermia induced seizures and reduced spontaneous seizure frequency compared to controls XREF_BIBR, XREF_BIBR."
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"In our studies, threshold temperature for hyperthermia induced seizures was elevated in Scn1a +/- mice treated with supratherapeutic levels of clobazam, while lower doses did not provide significant protection from hyperthermia induced seizures or premature death."
SCN1A affects GEFS+
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SCN1A activates GEFS+. 3 / 3
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"Since we wanted a model system to study the mechanism by which SCN1A missense mutations lead to GEFS+, we constructed transgenic mice using a BAC clone containing the complete mouse Scn1a gene."
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"SCN1A (Na V 1.1 sodium channel) mutations cause Dravet syndrome (DS) and GEFS+ (which is in general milder), and are risk factors in other epilepsies."
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"Rare mutations in SCN1A cause a wide spectrum of epilepsy syndromes, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, also known as severe myoclonic epilepsy of infancy) 5, depending on the nature of the mutation and possible genetic modifiers on other genes 30."
Mutated SCN1A activates GEFS+. 1 / 1
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"Careful analysis of the spatial and temporal distribution of Na v 1.1, its splice isoforms and its regulation will be necessary to better understand how SCN1A mutations lead to GEFS+."
SCN1A affects FST
| 1 3
SCN1A binds FST.
| 1 1
| 1
reach
"Another study conducted among Chinese children in Taiwan did not find any association between FS and SCN1A SNP rs2298771 (Chou et al., 2003)."
SCN1A binds FST and GABRG2. 1 / 1
| 1
sparser
"Among all the epilepsy genes, mutations in SCN1A and GABRG2 have been strongly associated with FS and extended epilepsy syndromes like generalized epilepsy with febrile plus (GEFS+) and Dravet syndrome xref – xref ."
SCN1A activates FST.
| 2
SCN1A activates FST. 1 / 1
| 1
reach
"Although our inability to find an association in the sub-group analysis might be due to the relatively small number of patients in the MTLE-HS-FS + (138 patients) and MTLE-HS-FS - (65 patients) sub-groups, positive results we obtained when these sub-groups were independently compared with the controls argue against such an assumption.Based on the above results, we conclude that SCN1A SNP rs3812718 does not contribute significantly to susceptibility to FS in South Indian population."
Mutated SCN1A activates FST. 1 / 1
| 1
reach
"Our findings illustrate that SCN1A mutations can cause simple FS associated with TLE, which differ from the characteristic clinical spectrum of GEFS+."
SCN1A affects FHM3
| 4
SCN1A activates FHM3. 3 / 3
| 3
reach
"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."
reach
"Until now, only eight SCN1A missense mutations have been described to cause FHM3."
reach
"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."
Mutated SCN1A activates FHM3. 1 / 1
| 1
reach
"FHM is classified into 3 types : FHM1, which is caused by CACNA1A mutations on chromosome 19p13, FHM2, caused by ATP1A2 mutations on chromosome 1q21-23, and FHM3, caused by SCN1A mutations on chromosome 2q24 [XREF_BIBR, XREF_BIBR]."
SCN1A affects ATP1A2
| 3 1
SCN1A binds ATP1A2.
| 3
| 1
sparser
"It is the only migraine disorder where pathogenetic mutations are known, since it is associated with mutations in the CANA1A, ATP1A2, and SCN1A genes [ xref ]."
| 1
sparser
"FHM may be associated with mutations in the genes CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) [ xref ]."
| 1
sparser
"Mutations in CACNA1A, ATP1A2 and SCN1A genes have been associated with familial hemiplegic migraine (FHM), a rare monogenic form of migraine [ xref ]."
SCN1A activates ATP1A2.
| 1
SCN1A activates ATP1A2. 1 / 1
| 1
reach
"In FHM type 1 the affected gene is CACNA1A (chromosome 19p13), coding for a P/Q calcium channel [XREF_BIBR], in FHM type 2 the ATP1A2 gene (chromosome 1q23) is affected, encoding a subunit of the Na + / K + -ATPase [XREF_BIBR], and FHM type 3 is caused by variants in the SCN1A gene (chromosome 2q24), coding for a sodium channel [XREF_BIBR]."
| 3
reach
"Treatment with (PhSe) 2 or NAC 1 h after the APAP dose diminished the TBARS and ROS generation to a level comparable to the control levels (XREF_TABLE)."
reach
"Except 1 mm DHA, the antioxidants reduced ROS at 4 h. Moreover, NAC 1 mm, rutin and TEMPOL reduced ROS and DNA damage in the presence of oxidative stress."
reach
"To test the potential role for ROS, B16.SIY cells were treated with 3 mM NAC 1 hour prior to cephalexin or amoxicillin as a positive control [XREF_BIBR, XREF_BIBR] +/- 6 Gy and examined by comet assay after 24 hours."
SCN1A affects RORA
| 3
| 3
sparser
"RORA rs12912233 and SCN1A rs3812718 with synergy interaction were located on the same branch, whereas RORA rs880626 was located on a different branch, hence indicating the strongest synergy interaction with RORA rs12912233 and SCN1A rs3812718 polymorphisms ( Fig.Ā 3 B)."
sparser
"There was a high-synergy redundancy interaction between RORA rs12912233 and SCN1A rs3812718 (interaction entropy of 0.32%) and between RORA rs880626 and RORB rs3750420 (interaction entropy of 0.17%), whereas the redundancy interaction between other peer loci was negative (interaction entropy more than āˆ’ 0.05%) ( Fig.Ā 3 A )."
sparser
"In conclusion, our case–control study suggests that RORA rs12912233 alone, or in interaction with RORA rs880626 and SCN1A rs3812718, might be a risk variant for susceptibility to epilepsy."
SCN1A affects FHM
| 3
SCN1A activates FHM. 2 / 2
| 2
reach
"So far, mutations in three different genes, CACNA1A, ATP1A2, and SCN1A, have been described to cause FHM and they are referred as FHM1, FHM2, and FHM3, respectively."
reach
"Gene mutations of CACNA1A, SCN1A, and ATP1A2 can cause FHM and we investigated only CACNA1A gene mutation in the present case that revealed negative result."
Mutated SCN1A activates FHM. 1 / 1
| 1
reach
"Among these, SCN1A encodes the voltage gated Na + channel Nav1.1, and FHM caused by mutations of SCN1A is named FHM3."
SCN1A affects ABCB1
| 2 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
| 1
sparser
"Functionally significant association of drug target genes such as GABRG2 and SCN1A and efflux transporter gene ABCB1 to susceptibility to epilepsy in the present population needs to be seen in combination rather than isolation in evaluating therapeutic response."
sparser
"The primary goals of this study were the following: (i) to analyze the association between several single nucleotide polymorphisms (SNPs) of the CYP2C9, CYP2C19, UGT2B7, ABCB1, and SCN1A genes by bivariate analysis and (ii) to analyze these associations taking into account some factors related with the patient and his/her epilepsy by multivariate analysis."
RORA affects SCN1A
| 3
| 3
sparser
"RORA rs12912233 and SCN1A rs3812718 with synergy interaction were located on the same branch, whereas RORA rs880626 was located on a different branch, hence indicating the strongest synergy interaction with RORA rs12912233 and SCN1A rs3812718 polymorphisms ( Fig.Ā 3 B)."
sparser
"There was a high-synergy redundancy interaction between RORA rs12912233 and SCN1A rs3812718 (interaction entropy of 0.32%) and between RORA rs880626 and RORB rs3750420 (interaction entropy of 0.17%), whereas the redundancy interaction between other peer loci was negative (interaction entropy more than āˆ’ 0.05%) ( Fig.Ā 3 A )."
sparser
"In conclusion, our case–control study suggests that RORA rs12912233 alone, or in interaction with RORA rs880626 and SCN1A rs3812718, might be a risk variant for susceptibility to epilepsy."
RACK1 affects SCN1A
| 3 3
RACK1 increases the amount of SCN1A.
| 1 2
RACK1 increases the amount of SCN1A. 1 / 1
| 1 1
reach
"Knocking-down RACK1 in NT2 cells markedly increased SCN1A mRNA levels."
Modified RACK1 increases the amount of SCN1A. 1 / 1
| 1
reach
"Knockdown of RACK1 expression in NT2 cells deprived the repressive role of the silencer on the P1c promoter and increased SCN1A transcription, suggesting the potential involvement of RACK1 in negatively regulating SCN1A transcription via interaction with the silencer."
RACK1 decreases the amount of SCN1A.
| 2 1
RACK1 decreases the amount of SCN1A. 1 / 1
| 2 1
reach
"Transcription of the human sodium channel SCN1A gene is repressed by a scaffolding protein RACK1."
NOVA2 affects SCN1A
| 3
NOVA2 activates SCN1A.
| 2
NOVA2 activates SCN1A. 2 / 2
| 2
reach
"Although no NOVA2 -mediated modulation of SCN1A exon 5 splicing was detected when all subjects were evaluated, a statistically significant correlation (uncorrected for multiple testing) was observed in human brain tissue between NOVA2 mRNA expression and the percentage of SCN1A transcripts containing exon 5N for the AA genotype."
reach
"Overall, this translated into Nova2 increasing the percentage of SCN1A transcripts containing exon 5N."
NOVA2 inhibits SCN1A.
| 1
NOVA2 inhibits SCN1A. 1 / 1
| 1
reach
"However, increasing Nova2 decreased the quantity of SCN1A transcripts containing the adult form of exon 5 while it simultaneously increased the number of transcripts containing the neonatal form."
NAV1 affects SCN1A
| 2 1
NAV1 binds SCN1A.
| 2
| 2
sparser
"A recent report of 9 patients with an early profound form of SMEI xref reported one patient with an Nav1.1-p."
sparser
"Mutations of the gene SCN1A (which encodes Nav1.1) in the nervous system have been associated with human inherited epileptic syndromes and familial hemiplegic migraine, suggesting that Nav1.1 might participate in the genesis of migraine ( xref ; xref )."
NAV1 activates SCN1A.
| 1
NAV1 activates SCN1A. 1 / 1
| 1
reach
"This appears to be a case in which a channelopathy produces an interneuronopathy since NaV1.1 (the protein product of Scn1a) is localized to the axon initial segments of parvalbumin positive (Pv +) fast spiking and Somatostatin positive (SST) interneurons in the neocortex and hippocampus, as well as to purkinje neurons of the cerebellum, which also exhibit fast spiking behavior."
ATP1A2 affects SCN1A
| 3
| 1
sparser
"It is the only migraine disorder where pathogenetic mutations are known, since it is associated with mutations in the CANA1A, ATP1A2, and SCN1A genes [ xref ]."
| 1
sparser
"FHM may be associated with mutations in the genes CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) [ xref ]."
| 1
sparser
"Mutations in CACNA1A, ATP1A2 and SCN1A genes have been associated with familial hemiplegic migraine (FHM), a rare monogenic form of migraine [ xref ]."
ABCB1 affects SCN1A
| 2 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
| 1
sparser
"Functionally significant association of drug target genes such as GABRG2 and SCN1A and efflux transporter gene ABCB1 to susceptibility to epilepsy in the present population needs to be seen in combination rather than isolation in evaluating therapeutic response."
sparser
"The primary goals of this study were the following: (i) to analyze the association between several single nucleotide polymorphisms (SNPs) of the CYP2C9, CYP2C19, UGT2B7, ABCB1, and SCN1A genes by bivariate analysis and (ii) to analyze these associations taking into account some factors related with the patient and his/her epilepsy by multivariate analysis."
Serotonin affects SCN1A
| 2
Serotonin inhibits SCN1A.
| 1
Serotonin inhibits mutated SCN1A. 1 / 1
| 1
reach
"Similarly, the 5-HT 2C -agonist (Ro 600175) decreased locomotor activity of scn1a mutant but also of the WT larvae."
Serotonin activates SCN1A.
| 1
Serotonin activates mutated SCN1A. 1 / 1
| 1
reach
"An adult woman with Dravet syndrome (documented SCN1A mutation) experienced a marked reduction in seizures when treated with the selective serotonin reuptake inhibitor (SSRI) fluoxetine."
| 2
reach
"We found that knockdown of KDM5B inhibited TPA mediated repression of SCN1A and ITPR1 (XREF_FIG)."
Phorbol 13-acetate 12-myristate decreases the amount of SCN1A.
| 1
| 1
reach
"We considered the possibility that TPA dependent signaling might inhibit the expression of SCN1A and ITPR1 by blocking the localization and/or function of PARP-1 at their promoters."
MiR164 affects SCN1A
| 2
MiR164 inhibits SCN1A.
| 1
MiR164 inhibits SCN1A. 1 / 1
| 1
reach
"Additionally, auxin signal is also known to regulate miR164 expression, which down-regulates the NAC1 transcription factor during LR initiation."
MiR164 activates SCN1A.
| 1
MiR164 activates SCN1A. 1 / 1
| 1
reach
"MiR164 mediates the cleavage of NAC1 (AT1G56010) and NAC2 (AT5G39610), which were involved in the processes of lateral root emergence and aging induced cell death and leaf senescence, respectively XREF_BIBR XREF_BIBR."
Lamotrigine affects SCN1A
| 2
| 2
reach
"By contrast, lamotrigine, a widely used sodium channel blocking antiepileptic drug, caused Scn1a +/- mice to exhibit a higher seizure frequency consistent with observations made in human Dravet syndrome 12."
reach
"Specifically, Scn1a +/- mice treated with lamotrigine (20mg/kg/day) beginning at age P18 exhibited significantly more spontaneous seizures during a video monitored period between P21 and P25 (223 seizures over 863hours, n = 9) than control animals (75 seizures over 958hours, n = 14, p = 0.0047)."
| 2
reach
"34-36 Based on these findings and our mortality results, we speculate that a lower level of endogenous GABA neurotransmission in females may contribute to comprise GABA interneuron function in Scn1a +/- mice, thereby tipping the balance toward elevated incidence of SUDEP."
reach
"In addition, increasing GABA signalling by application of the positive allosteric GABA A receptor modulator clonazepam was sufficient to rescue the abnormal social behaviour in Scn1a +/- mice 181."
Cas9 affects SCN1A
| 2
Cas9 increases the amount of SCN1A.
| 1
Cas9 increases the amount of SCN1A. 1 / 1
| 1
reach
"We designed a CRISPR based gene therapy for Scn1a-haplodeficient mice using multiple guide RNAs (gRNAs) in the promoter regions together with the nuclease deficient Cas9 fused to transcription activators (dCas9-VPR) to trigger the transcription of SCN1A or Scn1a in vitro."
Cas9 activates SCN1A.
| 1
Cas9 activates SCN1A. 1 / 1
| 1
reach
"Here we tested whether catalytically dead Cas9 (dCas9)-mediated Scn1a gene activation can rescue Scn1a haploinsufficiency in a mouse DS model and restore physiological levels of its gene product, the Na v 1.1 voltage gated sodium channel."
Captopril affects SCN1A
| 2
Captopril inhibits SCN1A.
| 1
| 1
reach
"Immunoblotting showed that captopril had prevented the AD related down-regulation of hippocampal Scn1a, i.e., the sodium channel, voltage gated, type I, alpha (XREF_FIG)."
Captopril activates SCN1A.
| 1
| 1
reach
"Moreover, captopril had promoted a significant increase in hippocampal Scn1a protein content over the level of 12 month-old Tg2576 mice (XREF_FIG)."
Beta2 ICD affects SCN1A
| 2
Beta2 ICD increases the amount of SCN1A.
| 1
Modified beta2 ICD increases the amount of SCN1A. 1 / 1
| 1
reach
"The beta2 ICD translocates to the nucleus and increases Scn1a expression, suggesting that this fragment may function as a transcriptional regulator of VGSC alpha subunits [XREF_BIBR]."
Beta2 ICD activates SCN1A.
| 1
Beta2 ICD activates SCN1A. 1 / 1
| 1
reach
"The beta2 ICD released by sequential BACE1 and gamma-secretase cleavage localizes to the nucleus and increases SCN1A mRNA and Na v 1.1 protein levels, suggesting that the cleaved beta2 ICD may function as a transcription regulator."
TNF affects SCN1A
2 |
TNF increases the amount of SCN1A.
1 |
Transcriptionally active TNF increases the amount of SCN1A. 1 / 1
1 |
signor
"TNF-α increases Na(+) currents by accelerating the channel activation as well as increasing the expression of VGSCs in a mechanism dependent upon NF-κB and p38 MAPK signal pathways in CNS neurons. TNF-α increased Na(+) currents by accelerating the activation of VGSCs. The threshold for action potential (AP) was decreased and firing rate were increased. VGSCs were up-regulated at both the mRNA and protein levels."
TNF activates SCN1A.
1 |
TNF activates SCN1A. 1 / 1
1 |
signor
"TNF-α increases Na(+) currents by accelerating the channel activation as well as increasing the expression of VGSCs in a mechanism dependent upon NF-κB and p38 MAPK signal pathways in CNS neurons. TNF-α increased Na(+) currents by accelerating the activation of VGSCs. The threshold for action potential (AP) was decreased and firing rate were increased. VGSCs were up-regulated at both the mRNA and protein levels."
| 1 1
sparser
"The novel association of SCN1A with SIDS supports further intense efforts to understand epilepsy-related mechanisms into sudden death across the age spectrum in individuals with and without an overt history of seizures or epilepsy."
reach
"Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS."
SNTA1 affects SCN1A
2 |
2 |
biogrid
No evidence text available
biogrid
No evidence text available
SNP affects SCN1A
| 2
| 2
sparser
"In addition, in the Caucasian population, Schlachter et al. found an association between SNP rs3812718 of SCN1A and febrile seizures (FS) [16] ."
sparser
"In the phase 1 sample, SNP rs6731900 located 1 kb 5′ to the TTC21B gene (encoding tetratricopeptide repeat domain 21B) and 103 kb 3′ to SCN1A SNP rs10930201 was also significantly (that is, FDR-corrected) associated with immediate recall performance ( xref )."
SCN1ANAT affects SCN1A
| 2
SCN1ANAT increases the amount of SCN1A.
| 1
SCN1ANAT increases the amount of SCN1A. 1 / 1
| 1
reach
"Taken together, the results from the 3 sets of experiments indicate that SCN1ANAT mediated increase of SCN1A expression does not result from spurious qualities of one AntagoNAT, non specific chemistry effect, generalized transcriptional upregulation or class effect involving all sodium channels."
SCN1ANAT activates SCN1A.
| 1
SCN1ANAT activates SCN1A. 1 / 1
| 1
reach
"While 86% of AntagoNATs designed against SCN1ANAT induced SCN1A upregulation at 20nM, the scale of upregulation was different (XREF_FIG)."
| 2
| 1
reach
"NAC-1 gene knockdown inhibited cell growth and induced apoptosis in HeLa, HeLa TG, and ME180 cells, all of which overexpressed NAC-1."
| 1
reach
"To further investigate whether FeNG induced ROS is required for induction of apoptosis, CEM and ADR5000 cells were treated with different concentrations of NAC 1 h prior to FeNG treatment and cell death and apoptosis was monitored by MTT assay and cell cycle analysis."
| 1 1
sparser
"The novel association of SCN1A with SIDS supports further intense efforts to understand epilepsy-related mechanisms into sudden death across the age spectrum in individuals with and without an overt history of seizures or epilepsy."
reach
"Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS."
SCN1A affects SNTA1
2 |
2 |
biogrid
No evidence text available
biogrid
No evidence text available
SCN1A affects SNP
| 2
| 2
sparser
"In addition, in the Caucasian population, Schlachter et al. found an association between SNP rs3812718 of SCN1A and febrile seizures (FS) [16] ."
sparser
"In the phase 1 sample, SNP rs6731900 located 1 kb 5′ to the TTC21B gene (encoding tetratricopeptide repeat domain 21B) and 103 kb 3′ to SCN1A SNP rs10930201 was also significantly (that is, FDR-corrected) associated with immediate recall performance ( xref )."
SCN1A affects RESPONSIVENESS
| 2
SCN1A binds RESPONSIVENESS. 2 / 2
| 2
trips
"Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy."
trips
"Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy."
SCN1A affects FHM2
| 2
SCN1A activates FHM2. 2 / 2
| 2
reach
"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."
reach
"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."
SCN1A affects FHM1
| 2
SCN1A activates FHM1. 2 / 2
| 2
reach
"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."
reach
"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."
SCN1A affects DEPDC5
| 2
| 1
sparser
"The identification of mutations in DEPDC5 and SCN1A in families showing heterogeneous phenotypic patterns enlarges the phenotypic spectrum of the epilepsies associated with these genes."
sparser
"The association of EAF with CNTNAP2 , DEPDC5 , and SCN1A mutations widens the phenotypic spectrum related to these genes."
SCN1A affects CYP2C9
| 2
| 1
sparser
"A 2005 study assessed whether variations in CYP2C9 and SCN1A were associated with the clinical use of carbamazepine (n = 425) and phenytoin (n = 281) [ xref ]."
sparser
"The primary goals of this study were the following: (i) to analyze the association between several single nucleotide polymorphisms (SNPs) of the CYP2C9, CYP2C19, UGT2B7, ABCB1, and SCN1A genes by bivariate analysis and (ii) to analyze these associations taking into account some factors related with the patient and his/her epilepsy by multivariate analysis."
RESPONSIVENESS affects SCN1A
| 2
SCN1A binds RESPONSIVENESS. 2 / 2
| 2
trips
"Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy."
trips
"Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy."
NOG affects SCN1A
2 |
Transcriptionally active NOG increases the amount of SCN1A. 2 / 2
2 |
biopax:ctd
No evidence text available
biopax:ctd
No evidence text available
NEDD4L affects SCN1A
2 |
NEDD4L ubiquitinates SCN1A.
1 |
NEDD4L ubiquitinates SCN1A. 1 / 1
1 |
signor
"The control of Nav density at the cell membrane is crucial to ensuring normal neuronal excitability. Navs are subject to posttranslational modifications that may influence their cell membrane availability. Ubiquitylation is a key process that orchestrates the internalization and subsequent degradation or recycling of Navs. This is accomplished by ubiquitin protein ligases, such as NEDD4-2 (neuronal precursor cell expressed developmentally downregulated-4 type 2)."
NEDD4L decreases the amount of SCN1A.
1 |
NEDD4L decreases the amount of SCN1A. 1 / 1
1 |
signor
"The control of Nav density at the cell membrane is crucial to ensuring normal neuronal excitability. Navs are subject to posttranslational modifications that may influence their cell membrane availability. Ubiquitylation is a key process that orchestrates the internalization and subsequent degradation or recycling of Navs. This is accomplished by ubiquitin protein ligases, such as NEDD4-2 (neuronal precursor cell expressed developmentally downregulated-4 type 2)."
MAPT affects SCN1A
| 2
MAPT inhibits SCN1A. 2 / 2
| 2
reach
"Tau ablation reduced the percentage of Scn1a RX/+ mice with seizures 2.7-fold to 16% without affecting seizure severity or duration in those mice that did develop seizures."
reach
"Tau Reduction Lowers Epileptic Activity and Network Hyperexcitability in Scn1a RX/+ Mice."
GS967 affects SCN1A
| 2
GS967 activates SCN1A. 2 / 2
| 2
reach
"A plausible explanation for normalization of pyramidal neuron sodium current density in Scn1a +/- mice chronically treated with GS967 is a change in the levels of sodium channel proteins."
reach
"Unexpectedly, Scn1a +/- mice treated with GS967 survived significantly longer than untreated Scn1a +/- littermates."
FST affects SCN1A
| 1 1
| 1
reach
"Another study conducted among Chinese children in Taiwan did not find any association between FS and SCN1A SNP rs2298771 (Chou et al., 2003)."
SCN1A binds FST and GABRG2. 1 / 1
| 1
sparser
"Among all the epilepsy genes, mutations in SCN1A and GABRG2 have been strongly associated with FS and extended epilepsy syndromes like generalized epilepsy with febrile plus (GEFS+) and Dravet syndrome xref – xref ."
FGF14 affects SCN1A
2 |
FGF14 inhibits SCN1A.
1 |
FGF14 inhibits SCN1A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF14 binds SCN1A.
1 |
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF13 affects SCN1A
2 | 1
FGF13 inhibits SCN1A.
1 |
FGF13 inhibits SCN1A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF13 binds SCN1A.
1 | 1
1 | 1
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF12 affects SCN1A
2 |
FGF12 inhibits SCN1A.
1 |
FGF12 inhibits SCN1A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF12 binds SCN1A.
1 |
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF11 affects SCN1A
2 |
FGF11 inhibits SCN1A.
1 |
FGF11 inhibits SCN1A. 1 / 1
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
FGF11 binds SCN1A.
1 |
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
DEPDC5 affects SCN1A
| 2
| 1
sparser
"The identification of mutations in DEPDC5 and SCN1A in families showing heterogeneous phenotypic patterns enlarges the phenotypic spectrum of the epilepsies associated with these genes."
sparser
"The association of EAF with CNTNAP2 , DEPDC5 , and SCN1A mutations widens the phenotypic spectrum related to these genes."
CYP2C9 affects SCN1A
| 2
| 1
sparser
"A 2005 study assessed whether variations in CYP2C9 and SCN1A were associated with the clinical use of carbamazepine (n = 425) and phenytoin (n = 281) [ xref ]."
sparser
"The primary goals of this study were the following: (i) to analyze the association between several single nucleotide polymorphisms (SNPs) of the CYP2C9, CYP2C19, UGT2B7, ABCB1, and SCN1A genes by bivariate analysis and (ii) to analyze these associations taking into account some factors related with the patient and his/her epilepsy by multivariate analysis."
ATP1A2 affects CACNA1A, and SCN1A
| 2
| 1
sparser
"FHM may be associated with mutations in the genes CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) [ xref ]."
| 1
sparser
"Mutations in CACNA1A, ATP1A2 and SCN1A genes have been associated with familial hemiplegic migraine (FHM), a rare monogenic form of migraine [ xref ]."
| 1
reach
"It is known that SCN1A (Smith et al., 1998), SCN2A (Noda et al., 1986; Suzuki et al., 1988; Smith et al., 1998), SCN3A (Suzuki et al., 1988), and SCN8A (Smith et al., 1998) alpha subunits bind tetrodotoxin and STX with comparable affinities."
Specific AntagoNAT CUR-1916 affects SCN1A
| 1
Specific AntagoNAT CUR-1916 increases the amount of SCN1A. 1 / 1
| 1
reach
"A single IT injection of the human specific AntagoNAT CUR-1916 in saline vehicle induced dose dependent increase of Scn1a expression in the brain of African green monkeys (XREF_FIG c-f)."
Span affects SCN1A
| 1
Span increases the amount of SCN1A. 1 / 1
| 1
reach
"A problem with this proposed experimental strategy is that the short time span from disease onset to SUDEP in the Scn1a +/- mouse model on the (C57BL/6J x 129S6/SvEvTac) F1 strain may not allow sufficient time to reactivate Scn1a expression between disease onset and death."
| 1
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"Here, a soybean (Glycine max) salinity induced NAC transcription factor encoded by SALT INDUCED NAC 1 (GmSIN1) was shown to be a key component of this process."
SiNAC1 affects SCN1A
| 1
SiNAC1 inhibits SCN1A. 1 / 1
| 1
reach
"Furthermore, Transwell assays demonstrated that down-regulation of NAC-1 by siNAC1 in DU-145 cells decreased the cell migration abilities compared with NC siRNA (XREF_FIG)."
| 1
| 1
reach
"Our primary goal was to determine whether Scn1a dysfunction caused by the RH mutation alters sensitivity to cocaine induced behavioral and electrographic (EEG) seizures."
Plants affects SCN1A
| 1
Plants activates SCN1A. 1 / 1
| 1
reach
"Tobacco plants overexpressing finger millet NAC1 (EcNAC1) transcription factor showed lower lipid peroxidation due to the lower levels of MDA under abiotic stress conditions."
Phenytoin affects SCN1A
| 1
Phenytoin activates mutated SCN1A. 1 / 1
| 1
reach
"In contrast, phenytoin not only rescues a trafficking defective SCN1A mutant but also blocks the channel."
Inositol affects SCN1A
| 1
reach
"Effects of normal aging and SCN1A risk gene expression on brain metabolites : evidence for an association between SCN1A and myo-inositol."
Icd affects SCN1A
| 1
Icd activates SCN1A. 1 / 1
| 1
reach
"In the case of beta2, the ICD increases Scn1a mRNA and Na v 1.1 protein levels."
HupA affects SCN1A
| 1
HupA activates mutated SCN1A. 1 / 1
| 1
reach
"The ability of Hup A to protect against hyperthermia induced seizures was evaluated in Scn1a mutant mice and their respective WT littermates."
Hsa-miR-933 affects SCN1A
1 |
Transcriptionally active hsa-miR-933 decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-93-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-7161-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-6867-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-6756-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-6749-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-576-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-574-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-548u decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-548c-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-518b decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4799-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4783-5p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4744 decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4668-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4509 decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-4263 decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-3613-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
1 |
Transcriptionally active hsa-miR-3127-3p decreases the amount of SCN1A. 1 / 1
1 |
biopax:mirtarbase
No evidence text available
Genotype affects SCN1A
| 1
SCN1A binds genotype. 1 / 1
| 1
sparser
"The results of this study confirmed the existence of a significant association of AG genotype and G allele of SCN1A c."
G. miR164 affects SCN1A
| 1
G. miR164 decreases the amount of SCN1A. 1 / 1
| 1
reach
"Its expression level also showed a gradual increase from the 7 th to the 9 th internode in both inbred lines, and NAC1 was negatively regulated by miR164a-d, and g. miR164 might decrease the expression of NAC1 by responding to auxin signaling, thereby reducing the elongation and development of the different internodes of the same inbred lines."
Cre affects SCN1A
| 1
SCN1A binds cre. 1 / 1
| 1
sparser
"In the social interaction test, Dlx1/2 - Scn1a +/āˆ’ mice spent less time interacting with the caged stranger mouse compared to Cre-negative Scn1a loxp /+mice ( xref )."
Cocaine affects SCN1A
| 1
Cocaine activates SCN1A. 1 / 1
| 1
reach
"These data suggest that the induction of NAC-1 by cocaine may be a compensatory mechanism that minimizes the behavioral impact of cocaine administration by regulating postsynaptic dopamine transmission within the nucleus accumbens."
Cisplatin affects SCN1A
| 1
| 1
reach
"NAC-1 knockdown experiments in ovarian cancer cell lines treated with cisplatin resulted in a reduction of cisplatin and HMGB1 induced autophagy and an increase in cytotoxicity of ovarian cancer cells."
Ceramide affects SCN1A
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Ceramide increases the amount of SCN1A. 1 / 1
1 |
bel
"Table 3 Known genes differentially expressed in ceramide-dependent apoptosis with no identified direct interaction with the ceramide-dependent apoptosis process"
Beta2-CTF affects SCN1A
| 1
Beta2-CTF activates SCN1A. 1 / 1
| 1
reach
"For example, the beta2-CTF translocates to the nucleus and promotes Scn1a mRNA and protein expression when heterologously expressed in cultured neurons."
Beta2 intracellular domain affects SCN1A
| 1
Modified beta2 intracellular domain increases the amount of SCN1A. 1 / 1
| 1
reach
"The beta2 intracellular domain translocates to the nucleus of transfected SH-SY5Y cells and increases expression of SCN1A, suggesting that it may function, directly or indirectly, as a transcriptional regulator of VGSC alpha subunit expression."
beta-amyloid peptide affects SCN1A
| 1
Modified beta-amyloid peptide increases the amount of SCN1A. 1 / 1
| 1
reach
"An interesting example is the finding that overexpression of beta-amyloid peptide, the pathogenic amyloid forming fragment in Alzheimer 's disease, drives down Scn1a expression in cortical interneurons 43."
Auxin affects SCN1A
| 1
Auxin increases the amount of SCN1A. 1 / 1
| 1
reach
"Additionally, auxin induces NAC1 expression at a reduced level in leaves and stems [XREF_BIBR - XREF_BIBR]."
TALEN isogenic affects SCN1A
| 1
TALEN isogenic activates SCN1A. 1 / 1
| 1
reach
"Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN mediated editing of the SCN1A gene."
ST8SIA2 affects SCN1A
| 1
| 1
reach
"It is known that SCN1A (Smith et al., 1998), SCN2A (Noda et al., 1986; Suzuki et al., 1988; Smith et al., 1998), SCN3A (Suzuki et al., 1988), and SCN8A (Smith et al., 1998) alpha subunits bind tetrodotoxin and STX with comparable affinities."
SINAT5 affects SCN1A
| 1
SINAT5 activates SCN1A. 1 / 1
| 1
reach
"SINAT5, which is an Arabidopsis homologue of the RING-finger Drosophila protein, is expressed in the vascular tissues of mature roots and can target NAC1 to down-regulate auxin signals in the plant cells."
SCN1A affects transport
| 1
| 1
sparser
"Also, low-affinity iron transport is inhibited by NaC1 and amiloride, but is stimulated by KC1, RbCI, LiC1 and CsC1 [5,6]."
| 1
reach
"It is known that SCN1A (Smith et al., 1998), SCN2A (Noda et al., 1986; Suzuki et al., 1988; Smith et al., 1998), SCN3A (Suzuki et al., 1988), and SCN8A (Smith et al., 1998) alpha subunits bind tetrodotoxin and STX with comparable affinities."
SCN1A affects sleep
| 1
SCN1A activates sleep. 1 / 1
| 1
reach
"While Scn1a haploinsufficiency is known to cause sleep and circadian abnormalities, hyperactivity, autistic- and anxiety like behavior in mouse models, these comorbidities have not been previously investigated in a systematic way in scn1lab mutant zebrafish."
SCN1A affects inositol
| 1
reach
"Effects of normal aging and SCN1A risk gene expression on brain metabolites : evidence for an association between SCN1A and myo-inositol."
| 1
reach
"Moreover, our results show that mutation of one allele of Scn1a also dramatically impairs sleep homeostasis in DS mice, as assessed from the large reduction in the rebound of slow wave activity after sleep deprivation."
SCN1A affects genotype
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SCN1A binds genotype. 1 / 1
| 1
sparser
"The results of this study confirmed the existence of a significant association of AG genotype and G allele of SCN1A c."
SCN1A affects gefS
| 1
Mutated SCN1A activates gefS. 1 / 1
| 1
reach
"Because GEFS + is caused by missense mutations of SCN1A, and Dravet syndrome is frequently associated with FS and temperature induced seizures, Dravet syndrome and GEFS + are considered to belong to the same disease spectrum that includes FS as the mildest phenotype (Hirose et al., 2002a, b, 2003, 2005)."
SCN1A affects fast spiking neurons
| 1
SCN1A activates fast spiking neurons. 1 / 1
| 1
eidos
"Previous studies suggest that the reduction of Nav1.1 expression leads to a decrease of fast spiking activity in inhibitory neurons ."
SCN1A affects expression
| 1
SCN1A activates expression. 1 / 1
| 1
sparser
"NAC1, a member of the NAC family, is induced by auxin and activates expression of two downstream auxin-responsive genes to promote lateral root development ( xref )."
SCN1A affects cut9
| 1
SCN1A inhibits cut9. 1 / 1
| 1
reach
"The cold sensitive scn1 and scn2 mutations, defective in late anaphase, can suppress the ts phenotype of cut9."
SCN1A affects cre
| 1
SCN1A binds cre. 1 / 1
| 1
sparser
"In the social interaction test, Dlx1/2 - Scn1a +/āˆ’ mice spent less time interacting with the caged stranger mouse compared to Cre-negative Scn1a loxp /+mice ( xref )."
SCN1A affects cocaine
| 1
SCN1A activates cocaine. 1 / 1
| 1
reach
"The augmentation in cocaine motor behavior produced by NAC-1 antisense pretreatment in the nucleus accumbens was not associated with increased dopamine release as estimated by microdialysis."
| 1
reach
"Overexpressions of the NAC-1 gene stimulated cell proliferation in cervical carcinoma cells of the TCS, CaSki, and HeLa P3 lines, which do not have endogenous NAC-1 expression."
| 1
reach
"Furthermore, Transwell assays demonstrated that down-regulation of NAC-1 by siNAC1 in DU-145 cells decreased the cell migration abilities compared with NC siRNA (XREF_FIG)."
SCN1A affects cell growth
| 1
| 1
reach
"NAC-1 gene knockdown inhibited cell growth and induced apoptosis in HeLa, HeLa TG, and ME180 cells, all of which overexpressed NAC-1."
| 1
reach
"Function of Hevea brasiliensis NAC1 in dehydration induced laticifer differentiation and latex biosynthesis."
SCN1A affects calcium(2+)
| 1
Mutated SCN1A activates calcium(2+). 1 / 1
| 1
reach
"The greater Ca (v) 2.1 currents caused by the R468Q CACNB4 mutation may increase the neurotransmitter release in the excitatory neurons under the condition of insufficient inhibitory neurons caused primarily by the SCN1A mutation."
| 1
reach
"Function of Hevea brasiliensis NAC1 in dehydration induced laticifer differentiation and latex biosynthesis."
SCN1A affects beta-1 subunit
| 1
SCN1A inhibits beta-1 subunit. 1 / 1
| 1
reach
"Thus, deletion of one copy of Scn1a induced a downregulation of the auxiliary beta-1 subunit."
SCN1A affects behavior
| 1
| 1
eidos
"Aken together , these data demonstrate that a deficit in Nav1.1 alters the temporal coordination of neuronal firing in CA1 and impairs behaviors that rely on the integrity of this network ."
SCN1A affects autophagy
| 1
| 1
reach
"Thus, the NAC1- mediated autophagy may be exploited as a new target for enhancing the efficacy of cisplatin against ovarian cancer and other types of malignancies."
SCN1A affects TTX-R I
| 1
SCN1A increases the amount of TTX-R I. 1 / 1
| 1
reach
"Here, we show that Scn1a haploinsufficiency leads to increased functional expression of TTX-R I Na in the heart."
SCN1A affects ST8SIA2
| 1
| 1
reach
"It is known that SCN1A (Smith et al., 1998), SCN2A (Noda et al., 1986; Suzuki et al., 1988; Smith et al., 1998), SCN3A (Suzuki et al., 1988), and SCN8A (Smith et al., 1998) alpha subunits bind tetrodotoxin and STX with comparable affinities."
SCN1A affects SPW-R
| 1
SCN1A inhibits SPW-R. 1 / 1
| 1
reach
"Here, in vivo electrophysiologic recordings of hippocampal local field potential (LFP) in both male and female mice demonstrate that Scn1a haploinsufficiency slows intrinsic ripple frequency and reduces the rate of SPW-R occurrence."
| 1
sparser
"Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of infancy)."
SCN1A affects PbeDREB2A
| 1
SCN1A binds PbeDREB2A. 1 / 1
| 1
reach
"Both the Y2H and BiFC assays indicated that PbeNAC1 could interact with PbeDREB1 or PbeDREB2A."
SCN1A affects PbeDREB1
| 1
SCN1A binds PbeDREB1. 1 / 1
| 1
reach
"Both the Y2H and BiFC assays indicated that PbeNAC1 could interact with PbeDREB1 or PbeDREB2A."
SCN1A affects Panayiotopoulos syndrome 48
| 1
Mutated SCN1A activates Panayiotopoulos syndrome 48. 1 / 1
| 1
reach
"43 Although the pathogenetic role of SCN1A mutations is increasingly recognised in familial hemiplegic migraine, 44,45 the hypothesis that SCN1A mutations might also underlie other epileptic conditions (eg, West syndrome, 46 Rasmussen encephalitis, 47 and atypical Panayiotopoulos syndrome 48) should be further investigated.The triggering effect of hyperthermia is one of the most striking clues in SMEI."
SCN1A affects PUM2
| 1
SCN1A activates PUM2. 1 / 1
| 1
reach
"For known Pum2 targets such as Scn1a and Scn8a, we did not detect changes at the mRNA level in 5-month-old brains."
SCN1A affects PSEN1
1 |
1 |
biogrid
No evidence text available
SCN1A affects PCDH7
| 1
| 1
sparser
"One recently published study based on 8696 cases and 26,157 controls [ xref ] identified that SCN1A and PCDH7 are associated with epilepsy."
SCN1A affects NR4A2
| 1
SCN1A decreases the amount of NR4A2. 1 / 1
| 1
reach
"The results showed that Nurr1 mRNA expression in MN9D cells was specifically down-regulated by the vectors of pSC-N1 and pSC-N2, and the silencing effects were 62.3% and 45.6%, respectively."
SCN1A affects NE
| 1
SCN1A inhibits NE. 1 / 1
| 1
reach
"By inhibiting the NE promoting TFs, both of these Nac1- and Oct4 mediated actions favor the ME choice and Nac1 in particular, may play a central role."
SCN1A affects MICA
| 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
SCN1A affects MDH2
| 1
| 1
sparser
"In addition, we showed that the H 2 O 2 levels increased in the hippocampus of the seizure mice, and H 2 O 2 could promote the binding of MDH2 to the binding sites of Scn1a gene, whereas β-mercaptoethanol decreased the binding capability, indicating an important effect of the seizure-induced oxidation on the MDH2-mediated downregulation of Scn1a expression."
SCN1A affects Hiss
| 1
SCN1A activates Hiss. 1 / 1
| 1
reach
"The Scn1a homozygous mutant rats are named as hyperthermia induced seizure susceptible (Hiss) rats."
SCN1A affects HRH1
| 1
| 1
sparser
"It is interesting to note that NAB2, a GWAS gene, is predicted to interact with two of these novel genes HRH1 and SCN1A that are targeted by nervous system drugs."
SCN1A affects GAN
1 |
1 |
biogrid
No evidence text available
SCN1A affects GABAA receptor
| 1
SCN1A inhibits GABAA receptor. 1 / 1
| 1
reach
"Scn1a missense mutation impairs GABAA receptor mediated synaptic transmission in the rat hippocampus."
SCN1A affects FMH 1
| 1
SCN1A activates FMH 1. 1 / 1
| 1
reach
"Approaches to identified genes for monogenic subtypes migraine (e.g. Familial Hemiplegic Migraine - FHM) has been successful (CACNA1A, ATP1A2, SCN1A genes causing FMH 1, 2 and 3 respectively) [XREF_BIBR - XREF_BIBR]."
SCN1A affects FHM3 subtype
| 1
SCN1A activates FHM3 subtype. 1 / 1
| 1
reach
"The FHM3 subtype is caused by mutations in SCN1A, which is also the most frequent epilepsy gene encoding the voltage gated Na + channel Na V 1.1."
SCN1A affects FHM type 3
| 1
SCN1A activates FHM type 3. 1 / 1
| 1
reach
"FHM Type 2 is caused by mutations in the ATP1A2 gene and FHM type 3 is caused by mutations in the SCN1A gene encoding the Na + channel, voltage gated, type I, alpha subunit."
SCN1A affects FGF14
1 |
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
SCN1A affects FGF13
1 | 1
1 | 1
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
SCN1A affects FGF12
1 |
1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
SCN1A affects FGF11
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1 |
signor
"Sodium channel fast inactivation is modulated by alpha subunit interaction with a family of cytoplasmic proteins termed fibroblast growth factor homologous factors (FHFs). In this paper, we report that all A-type FHFs exert rapid onset long-term inactivation on Nav1.6 and other sodium channels."
SCN1A affects FAS
| 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
SCN1A affects ERVK-10
| 1
| 1
reach
"We and others have shown that mutations in Scn8a reduce spike firing in cortical excitatory and inhibitory neurons, whereas in the thalamus, the related VGSC gene Scn1a has been shown to reduce burst and tonic firing of RT cells."
SCN1A affects EPHX1
| 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
SCN1A affects EAF2
| 1
SCN1A activates EAF2. 1 / 1
| 1
reach
"Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the alpha-subunit of the voltage gated sodium channel Na v 1.1."
SCN1A affects Dravet
| 1
SCN1A inhibits Dravet. 1 / 1
| 1
reach
"The enrichment of inhibitory neuronal expression among ASD candidate genes provides molecular support for the finding that deficits in inhibitory neuronal function occurs in some syndromes with autism associated behaviors, such as individuals with ARX mutations XREF_BIBR, XREF_BIBR, Dravet syndrome caused by loss-of-function mutations in SCN1A 72, and Tuberous Sclerosis caused by mutations in TSC1/2 XREF_BIBR, XREF_BIBR (for review, see ref."
SCN1A affects DNA Damage
| 1
| 1
reach
"Except 1 mm DHA, the antioxidants reduced ROS at 4 h. Moreover, NAC 1 mm, rutin and TEMPOL reduced ROS and DNA damage in the presence of oxidative stress."
SCN1A affects DDX53
| 1
SCN1A inhibits DDX53. 1 / 1
| 1
reach
"We found that while heterozygous Scn1a mice had lowered spontaneous motor activity in home cage, they were hyperactive in novel environments."
SCN1A affects CoREST1-AAA
| 1
SCN1A binds CoREST1-AAA. 1 / 1
| 1
reach
"ChIP studies revealed reduced binding of CoREST1-AAA to the SCN1A and SCN3A promoters, although the SCN2A2 promoter was fully bound (XREF_FIG)."
SCN1A affects CYP3A4
| 1
| 1
reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
SCN1A affects CTNNBL1
| 1
| 1
sparser
"Increased I NaP is associated with mutations in SCN1A that have been identified from individuals with epilepsy ( xref ) and is specifically reduced by AEDs such as phenytoin, valproate and lamotrigine ( xref )."
SCN1A affects CKbetaBP2
| 1
SCN1A decreases the amount of CKbetaBP2. 1 / 1
| 1
reach
"For example, NAC-1, a BTB/POZ protein, repressed transcription of the CKbetaBP2 and CRIF1 gene."
SCN1A affects CALM
| 1
SCN1A inhibits CALM. 1 / 1
| 1
reach
"Both FHM3 and autism alleles of SCN1A perturb calmodulin interacting intracellular regions of the channel protein."
SCN1A affects BCL6
| 1
| 1
sparser
"Tissue lysates from different regions of rat brain resulted in the presence and association of endogenous NAC1 and BCL6 proteins, but not the PLZF protein."
SCN1A affects Ala-Val
| 1
| 1
reach
"Scn1a +/- mice have increased cardiac I Na, similar to Scn1b null mice, and display bradycardia, focal discharges, R-R variability, and bundle branch block but not AV block on ECGs obtained by telemetry of conscious animals."
SCN1A affects Action potential
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SCN1A activates Action potential. 1 / 1
1 |
signor
"The expression of voltage-gated sodium channels (NaVs) is a key feature for initiation and conduction of action potentials in excitable tissues and cells such as cardiac and skeletal muscle and neurons."
SCN1A affects ARAC4
| 1
SCN1A activates ARAC4. 1 / 1
| 1
reach
"We further showed that PAT4 and SCN1, a ROP regulator, additively mediate the stability and targeting of ROP2."
SCN1A affects ACE2
| 1
| 1
sparser
"Two genes, SCN1A and ACE2 , were associated with the clinical measure of non-painful orofacial symptoms, one of the predictors of TMD incidence."
SCN1A affects 3A
| 1
| 1
sparser
"This is due to the fact that some of these entities refer to the family of genes (for example VOLTAGE-GATED POTASSIUM CHANNEL, SCN, CYP), some entities are recognized partly (for example, SCN1 which is a part of SCN1-3A) and others are the synonyms of genes and proteins that are used as abbreviations for other biological entities in the abstracts."
SCN1A affects (5'-CCCATGATATTTGTAAGTGCAG-3'
| 1
SCN1A inhibits (5'-CCCATGATATTTGTAAGTGCAG-3'. 1 / 1
| 1
reach
"The SCN1A IVS5-91G> A polymorphism was detected directly by automated DNA sequencing post PCR amplification using forward (5 '-TTTCAGAGTCTTGAGAGCTTTG-3 ') and reverse (5 '-CCCATGATATTTGTAAGTGCAG-3 ') primers.Statistical analysis was performed using the SPSS software (version 16.0; SPSS Inc., IL, USA)."
S2 affects SCN1A
| 1
S2 inhibits mutated SCN1A. 1 / 1
| 1
reach
"Sigma 2 -antagonism (by SM 21) did not decrease epileptiform locomotor or brain activity in scn1a mutant larvae but lowered the locomotor activity of WT larvae."
RNA-Seq affects SCN1A
| 1
RNA-Seq inhibits mutated SCN1A. 1 / 1
| 1
reach
"RNA-Seq revealed three genes with significant differences in total gene expression between Scn1A deletion on the two backgrounds, including the alpha2 subunit of GABA A Rs, associating low Gabra2 expression with the B6 allele and reduced survival of Scn1A mutants on this background."
PbeDREB2A affects SCN1A
| 1
SCN1A binds PbeDREB2A. 1 / 1
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reach
"Both the Y2H and BiFC assays indicated that PbeNAC1 could interact with PbeDREB1 or PbeDREB2A."
PbeDREB1 affects SCN1A
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SCN1A binds PbeDREB1. 1 / 1
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"Both the Y2H and BiFC assays indicated that PbeNAC1 could interact with PbeDREB1 or PbeDREB2A."
PSEN1 affects SCN1A
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1 |
biogrid
No evidence text available
PPARA affects SCN1A
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PPARA inhibits SCN1A. 1 / 1
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"This effect was specific as lentiviral knockdown of PPARalpha did not modulate the short-term memory related molecule Scn1a in vivo in the hippocampus (XREF_FIG)."
PLURIPETALA affects SCN1A
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PLURIPETALA activates SCN1A. 1 / 1
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"PLURIPETALA mediates ROP2 localization and stability in parallel to SCN1 but synergistically with TIP1 in root hairs."
PD149163 affects SCN1A
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PD149163 activates SCN1A. 1 / 1
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"As previously found, 0.5 mg/kg of PD149163 increased pGSK-3alpha Ser21 and pGSK-3beta Ser9 in the NAc 1 h after administration."
PCDH7 affects SCN1A
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sparser
"One recently published study based on 8696 cases and 26,157 controls [ xref ] identified that SCN1A and PCDH7 are associated with epilepsy."
NEUROD1 affects SCN1A
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NEUROD1 increases the amount of SCN1A. 1 / 1
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"Beta2 (and beta4) intracellular domains can translocate into the nucleus and enhance SCN1A expression, thus functioning as transcriptional regulators of the VGSC alpha-subunit."
NANOG affects PRMT1, RNF2, SCN1A, SMARCAD1, and ZFP42
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sparser
"The strong impact change of all three genes upon nanog downregulation is rather puzzling, as smarcad1, prmt1 and rnf2 only interact with nanog through mediators rex1 and nac1 (whose values do not change throughout the experiment) and are situated at the periphery of the ESC network [ xref ]."
NAC affects SCN1A
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NAC inhibits SCN1A. 1 / 1
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"Representative blot in XREF_FIG and corresponding bar diagram (XREF_FIG) demonstrated that pretreatment of NAC (1 and 5 mM) to SsnB treated cells inhibited the activation on caspase-3 and brings to control levels in both SH-SY5Y (upper panel) and SK-N-BE (2) cells (middle panel) (#p < 0.05, SsnB 10 microM vs SsnB 10 microM + NAC 1 or 5 mM)."
MICA affects SCN1A
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reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
MDH2 affects SCN1A
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sparser
"In addition, we showed that the H 2 O 2 levels increased in the hippocampus of the seizure mice, and H 2 O 2 could promote the binding of MDH2 to the binding sites of Scn1a gene, whereas β-mercaptoethanol decreased the binding capability, indicating an important effect of the seizure-induced oxidation on the MDH2-mediated downregulation of Scn1a expression."
LFP affects SCN1A
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LFP activates SCN1A. 1 / 1
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"However, similar to the anesthetized condition, no significant differences were detected in the LFP signal in Scn1a -/+ mice compared with controls."
KDM5B affects SCN1A
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KDM5B inhibits SCN1A. 1 / 1
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"We found that knockdown of KDM5B inhibited TPA mediated repression of SCN1A and ITPR1 (XREF_FIG)."
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sparser
"For example, Dravet syndrome is a devastating epileptic encephalopathy that associates with mutations in the human SCN1A gene encoding the voltage gated potassium channel subunit Na v 1.1."
Intravenous injections AAV particles containing gRNAs mice Scn1a-haplodeficiency neuron-specific dCas9-VPR affects SCN1A
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Intravenous injections AAV particles containing gRNAs mice Scn1a-haplodeficiency neuron-specific dCas9-VPR inhibits SCN1A. 1 / 1
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eidos
"Intravenous injections of AAV particles containing the optimal combination of 4 gRNAs into transgenic mice with Scn1a-haplodeficiency and inhibitory neuron-specific expression of dCas9-VPR at four weeks of age increased Nav1.1 expression in parvalbumin-positive GABAergic neurons , ameliorated their febrile seizures and improved their behavioral impairments ."
IL10 affects SCN1A
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Transcriptionally active IL10 decreases the amount of SCN1A. 1 / 1
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signor
"Interleukin-10 down-regulates voltage gated sodium channels in rat dorsal root ganglion neurons. Consistent with the electrophysiological results, real-time PCR and western blot revealed that IL-10 (200 pg/ml) down-regulated VGSCs in both mRNA and protein levels and reversed the up-regulation of VGSCs by TNF-α."
Hm1a affects SCN1A
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Hm1a activates SCN1A. 1 / 1
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"7 The Petrou group showed that application of Hm1a to mouse brain slices rescued hippocampal CA1 PV+ fast spiking interneuron function in Scn1a +/- DS mice but, surprisingly, had no effect on CA1 inhibitory neuron firing in WT littermate mice or on excitatory CA1 pyramidal neurons in DS mice."
Histone_H3 affects SCN1A
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reach
"We found that de-conjugation of SUMO-2/3 led to de-repression, loss of promoter occupancy by CoREST1 and LSD1, increased H3K4 methylation, and increased H3 acetylation of the SCN1A and SCN3A genes, but did not affect another CoREST1 and LSD1 target gene, SCN2A2."
HRH1 affects SCN1A
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sparser
"It is interesting to note that NAB2, a GWAS gene, is predicted to interact with two of these novel genes HRH1 and SCN1A that are targeted by nervous system drugs."
Glu-Glu-Gly affects SCN1A
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Glu-Glu-Gly activates mutated SCN1A. 1 / 1
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"High-frequency EEG oscillations in hyperthermia induced seizures of Scn1a mutant rats."
GAPDH affects SCN1A
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GAPDH activates SCN1A. 1 / 1
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"GAPDH mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions."
GAN affects SCN1A
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1 |
biogrid
No evidence text available
FST affects GABRG2, and SCN1A
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SCN1A binds FST and GABRG2. 1 / 1
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sparser
"Among all the epilepsy genes, mutations in SCN1A and GABRG2 have been strongly associated with FS and extended epilepsy syndromes like generalized epilepsy with febrile plus (GEFS+) and Dravet syndrome xref – xref ."
FAS affects SCN1A
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"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
ESR2 affects SCN1A
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Transcriptionally active ESR2 decreases the amount of SCN1A. 1 / 1
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signor
"17β-Estradiol regulates the gene expression of voltage-gated sodium channels. . In this study, we investigate the mRNA expressions of Nav channel subtypes mediated differentially by the ERs in the DRGs of wild-type (WT) and estrogen receptor knockout (αERKO and βERKO) mice. In the present study, by means of quantitative real-time PCR, we found that the expressions of Nav1.1, Nav1.7, Nav1.8, and Nav1.9 subtypes were elevated in αERKO and βERKO mice"
ESR1 affects SCN1A
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Transcriptionally active ESR1 decreases the amount of SCN1A. 1 / 1
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signor
"17β-Estradiol regulates the gene expression of voltage-gated sodium channels. . In this study, we investigate the mRNA expressions of Nav channel subtypes mediated differentially by the ERs in the DRGs of wild-type (WT) and estrogen receptor knockout (αERKO and βERKO) mice. In the present study, by means of quantitative real-time PCR, we found that the expressions of Nav1.1, Nav1.7, Nav1.8, and Nav1.9 subtypes were elevated in αERKO and βERKO mice"
EPHX1 affects SCN1A
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reach
"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
CoREST1-AAA affects SCN1A
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SCN1A binds CoREST1-AAA. 1 / 1
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reach
"ChIP studies revealed reduced binding of CoREST1-AAA to the SCN1A and SCN3A promoters, although the SCN2A2 promoter was fully bound (XREF_FIG)."
CoREST1 affects SCN1A
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CoREST1 inhibits SCN1A. 1 / 1
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"These data indicate that stable binding of CoREST1 and transcriptional repression of the SCN1A and SCCN3A genes are dependent on an intact CoREST1 SIM."
CYP3A4 affects SCN1A
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"We did not observe any significant associations between ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA or BAG6 genes and CBZ dose or dose adjusted concentration in CBZ-tolerant patients."
CTNNBL1 affects SCN1A
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sparser
"Increased I NaP is associated with mutations in SCN1A that have been identified from individuals with epilepsy ( xref ) and is specifically reduced by AEDs such as phenytoin, valproate and lamotrigine ( xref )."
CRM197 affects SCN1A
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CRM197 activates SCN1A. 1 / 1
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"CRM197 reverses paclitaxel resistance by inhibiting the NAC-1 and Gadd45 pathway in paclitaxel resistant ovarian cancer cells."
CNTNAP2 affects DEPDC5, EAF family, and SCN1A
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sparser
"The association of EAF with CNTNAP2 , DEPDC5 , and SCN1A mutations widens the phenotypic spectrum related to these genes."
CB2Rs affects SCN1A
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CB2Rs inhibits SCN1A. 1 / 1
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"We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice."
CARM1 affects SCN1A
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CARM1 methylates SCN1A. 1 / 1
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"The analysis clearly showed that CARM1 methylates histone H3, but not GST or GST-NAC1."
BCL6 affects SCN1A
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sparser
"Tissue lysates from different regions of rat brain resulted in the presence and association of endogenous NAC1 and BCL6 proteins, but not the PLZF protein."
AntagoNATs affects SCN1A
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AntagoNATs activates SCN1A. 1 / 1
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"3.10 Intrathecal Injection of Human AntagoNATs Upregulates Scn1a in Non human Primate Brain."
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reach
"Immunoblotting showed that captopril had prevented the AD related down-regulation of hippocampal Scn1a, i.e., the sodium channel, voltage gated, type I, alpha (XREF_FIG)."
ARX affects SCN1A, and SCN1B
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SCN1A binds SCN1B and ARX. 1 / 1
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sparser
"Investigation of genes associated with infantile forms of epilepsy such as SCN1A, SCN1B, and ARX were negative, but we identified a novel single-nucleotide duplication mutation, c."
ARX affects CDKL5, KCNQ2, MECP2, SCN1A, and STXBP1
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SCN1A binds CDKL5, STXBP1, KCNQ2, MECP2, and ARX. 1 / 1
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sparser
"Genes associated with early-onset epilepsy, STXBP1 , KCNQ2 , CDKL5 , SCN1A , MECP2 and ARX, and several genes associated with neurometabolic disease including POLG1 and NDUFAF1 were sequenced with no significant variations ."
ARSD affects SCN1A, SCN2A, SCN3A, SCN7A, and SCN8A
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sparser
"SCN1A , SCN2A , SCN3A , SCN7A and SCN8A are associated with ASD [ xref ]."
ARSD affects SCN1A
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ARSD inhibits SCN1A. 1 / 1
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"Utilizing the reciprocal interaction protocol, decreased interactions have been observed in Scn1a +/-, BTBR T+ tf/J, and C58J mouse models of ASD."
APP affects SCN1A
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Transcriptionally active APP increases the amount of SCN1A. 1 / 1
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biopax:ctd
No evidence text available
ADRB2 affects SCN1A
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ADRB2 inhibits mutated SCN1A. 1 / 1
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reach
"A selective antagonist of the beta 2 -adrenergic receptor (ICI 118551) was able to significantly reduce the locomotor activity of scn1a mutant larvae."
ACTA1 affects COL10A1, and SCN1A
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sparser
"Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFSĀ +) and severe myoclonic epilepsy of infancy (SMEI)."
ACE2 affects SCN1A
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sparser
"Two genes, SCN1A and ACE2 , were associated with the clinical measure of non-painful orofacial symptoms, one of the predictors of TMD incidence."
ABCB1 affects GABRG2, and SCN1A
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sparser
"Functionally significant association of drug target genes such as GABRG2 and SCN1A and efflux transporter gene ABCB1 to susceptibility to epilepsy in the present population needs to be seen in combination rather than isolation in evaluating therapeutic response."
ABCB1 affects CYP2C19, CYP2C9, SCN1A, and UGT2B7
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sparser
"The primary goals of this study were the following: (i) to analyze the association between several single nucleotide polymorphisms (SNPs) of the CYP2C9, CYP2C19, UGT2B7, ABCB1, and SCN1A genes by bivariate analysis and (ii) to analyze these associations taking into account some factors related with the patient and his/her epilepsy by multivariate analysis."
AAV9-NaVbeta1 affects SCN1A
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AAV9-NaVbeta1 activates SCN1A. 1 / 1
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"In the AAV treated mice, there was no difference in the chamber temperature required to induce seizures in male (XREF_FIG) versus female (XREF_FIG) Scn1a +/- mice injected with AAV-EV compared with those treated with AAV9-NaVbeta1."
AAA affects SCN1A
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Mutated AAA decreases the amount of SCN1A. 1 / 1
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"CoREST1-AAA-res also restored repression of SCN2A2, but the CoREST1 AAA mutant failed to repress transcription of SCN1A or SCN3A (XREF_FIG)."
3A affects SCN1A
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sparser
"This is due to the fact that some of these entities refer to the family of genes (for example VOLTAGE-GATED POTASSIUM CHANNEL, SCN, CYP), some entities are recognized partly (for example, SCN1 which is a part of SCN1-3A) and others are the synonyms of genes and proteins that are used as abbreviations for other biological entities in the abstracts."
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3-hydroxybutyric acid increases the amount of SCN1A. 1 / 1
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"Furthermore, administration of KD generates beta-hydroxybutyric acid which rescues the abnormal expressions of Scn1a and Scn3a by weakening the GAPDH 's binding to the element."