Recombinant Human Sodium channel protein type 1 subunit alpha (SCN1A), partial

1. Our cases represent a novel association between SCN1A and sudden infant death syndrome (SIDS), extending the SCN1A spectrum from epilepsy to SIDS. PMID:29601086
2. The effect of Ca(2+), domain-specificity, and CaMKII on CaM binding to NaV1.1 has been reported. PMID:30142967
3. This first genetic study of Dravet syndrome in Africa confirms that de novo SCN1A variants underlie disease in the majority of South African patients. PMID:30321769
4. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition. PMID:28433711
5. Postzygotic mutation is a common phenomenon in SCN1A-related epilepsies. Participants with mosaicism have on average milder phenotypes, suggesting that mosaicism can be a major modifier of SCN1A-related diseases. PMID:29460957
6. SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures PMID:29649454
7. rs7668282 (UGT2B7, T>C) was more prevalent in sodium valproate (VPA)-resistant patients than drug-responsive patients. rs2242480 (CYP3A4, C>T) and rs10188577 (SCN1A, T>C) were more prevalent in drug-responsive patients compared to drug-resistant patients. In children with generalized seizures on VPA therapy, polymorphisms of UGT2B7, CYP3A4, and SCN1A genes were associated with seizure reduction. PMID:29679912
8. Meta-analysis indicates that the A-allele of SCN1A rs2298771 polymorphism, especially AA genotype, may play an important role in responsiveness to sodium channel blocking antiepileptic drugs, while SCN1A rs3812718 polymorphism is not associated. PMID:29582177
9. Study established induced pluripotent stem cells (iPSC)from two Dravet syndrome patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons. Unique genetic alterations of SCN1A differentially impacted electrophysiological impairment of the neurons, and the impairment's extent corresponded with the symptomatic severity of the donor from which the iPSCs were derived. PMID:29295803
10. miR155 may be associated with the risk of seizure and SCN1A may be a target gene of miR155. PMID:29115566
11. we report a Chinese familial hemiplegic migraine type 3 family with a novel mutation in the SCN1A gene. PMID:27919014
12. The polymorphic SCN1A c.3184A>G/p.Thr1067Ala G allele was associated with a lower risk of epilepsy and a higher remission rate in Slovenian children and adolescents with epilepsy. PMID:28753467
13. The evaluation of an SCN1A mutation. PMID:27582020
14. These findings provide insight into a pharmacophore on domain IV voltage sensor through which modulation of inactivation gating can inhibit or facilitate Nav1.1 function. PMID:28607094
15. SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS. PMID:29429462
16. study showed a significant association between rs6730344, rs6732655 and rs10167228 polymorphisms in the intronic regions of the SCN1A gene and refractory epilepsy, thus emerging as risk factors for drug resistance PMID:29353705
17. showed large-scale developmental brain changes in patients with epilepsy and SCN1A gene mutation, which may be associated with the core symptoms of the patients PMID:28664031
18. These data provide evidence that Nav1.1 is indeed vulnerable to deltamethrin modification at lower concentrations than Nav1.6, and this effect is primarily mediated during the resting state. PMID:28007400
19. SCN1A deletions are more common than SCN1A duplications among Dravet syndrome patients, and the most common types are whole SCN1A deletions. PMID:29188601
20. Two novel missense mutations: p.G325A in the KDM6A gene responsible for Kabuki syndrome and p.G1877V in the SCN1A gene responsible for generalized epilepsy with febrile seizures plus were identified using the TruSight One sequencing panel. PMID:28442529
21. Similar to the known FHM3 mutations, this novel mutation predicts hyperexcitability of GABAergic inhibitory neurons. PMID:26763045
22. Study found in patients with focal seizures a seemingly uneven distribution of mutations within the SCN1A gene. Study identified valproic acid, stiripentol, and clobazam to be 3 medications that have the best effect on management of focal seizures due to an SCN1A mutation similar to what is seen in most cases of Dravet Syndrome. PMID:27777328
23. A novel SCN1A mutation was found in an 8-year-old boy with GEFS+. The father has the same mutation, but he only had childhood simple febrile seizures. PMID:28262406
24. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder..the data in this study identify GABRB3 as a candidate gene for Dravet syndrome PMID:28544625
25. Dravet syndrome-derived inhibitory neurons showed deficits in sodium currents and action potential firing, which were rescued by a Nav1.1 transgene, whereas Dravet excitatory neurons were normal. PMID:27458797
26. The results further substantiate the contribution of SCN1A in response and therapy optimization with PHT monotherapy. PMID:27245092
27. Rather than a single common gene/variant modifying clinical outcome in SCN1A-related epilepsies, our results point to the cumulative effect of rare variants with little to no measurable phenotypic effect (i.e., typical genetic background) unless present in combination with a disease-causing truncation mutation in SCN1A. PMID:28686619
28. The frequency of pathogenic variants was 4.17% in the patients with refractory epilepsy and Dravet syndrome and 11.1% in DS patients. L1775P missense mutation was predicted to be damaging with a score of 100% by the PolyPhen-2 program. PMID:28525652
29. genetic variants in 3'UTR of SCN1A PMID:27473590
30. Among these transmissions were two likely disease-causing mutations: an SCN1A mutation transmitted to an SUDC proband and her sibling with Dravet syndrome, as well as an SLC6A1 mutation in a proband with epileptic encephalopathy. PMID:26716362
31. study presents a phenotype-genotype correlation for SCN1A; described a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the Dravet syndrome and genetic epilepsy with febrile seizures plus PMID:28794249
32. This study demonstrated that early-life prolonged FSs have a profound long-term impact on neuronal function and adult seizure phenotypes in a mouse model of human SCN1A dysfunction. PMID:28373025
33. Pathogenic, likely pathogenic, and benign variants in SCNs were identified using databases of sodium channel variants. Benign variants were also identified from population-based databases. Eight algorithms commonly used to predict pathogenicity were compared. In addition, logistic regression was used to determine if a combination of algorithms could better predict pathogenicity. PMID:28518218
34. this study showed that SCN1A testing be considered in all individuals with febrile seizures or Dravet syndrome , as well as in familial cases consistent with febrile seizures. PMID:28084635
35. This study found significant differences in the distribution of truncating and missense variants across the SCN1A sequence among healthy individuals, patients with Dravet syndrome. PMID:28012175
36. A heterozygous mutation h1u-1962 T > G was identified in a patient with partial epilepsy and febrile seizures, which was aggravated by oxcarbazepine. PMID:26969601
37. SCN1A mutations may alter axonal function, causing motor neuropathy/neuronopathy. This may contribute to gait disturbance and orthopedic misalignment, which is characteristic of patients with Dravet syndrome. PMID:27316242
38. The association study indicated that age at first seizure and frameshift mutations of SCN1A were associated with Dravet syndrome. PMID:28202706
39. Study reported the range of rare copy number variants found in SCN1A gene in a series of Welsh patients with childhood-onset epilepsy and intellectual disability and identified clearly or likely pathogenic CNVs in 8.8 % of the patients including 5 rare de novo deletions. PMID:27113213
40. Our findings suggest that SCN1A mutation leads to changes in the dopamine system that may contribute to the behavioral abnormalities in DS. PMID:26841829
41. This study demonstrated that a significant higher frequency of the AG genotype (p=0.001) and G allele (p=0.006) of SCN1A polymorphism in epileptic patients than in controls. PMID:27498208
42. Dravet syndrome is associated with mutations in the sodium channel alpha1 subunit gene (SCN1A) in 70-80% of individuals. PMID:27264139
43. The presence of SCN1A mutations and absence of mutations in ATP1A2 or CACNA1A suggest that the Polish patients represent FHM type 3. PMID:26747084
44. The findings of this study in scn1a mutant zebrafish suggest that glucose and mitochondrial hypometabolism contribute to the pathophysiology of DS. PMID:27066534
45. Mutations in SCN1A, the gene that encodes the alpha subunit of voltage-gated sodium channel Nav1.1, can cause epilepsies. PMID:26731440
46. Retrospective study to survey the efficacy of antiepileptic drugs in Dravet syndrome with different SCN1A genotypes PMID:26183863
47. No causative variants were identified in any of non-DS epileptic patients in our cohort, suggesting a minor, but not irrelevant role for SCN1A in patients with other types of childhood epilepsy. PMID:27045673
48. Mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion PMID:26311622
49. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PMID:26990884
50. The SCN1A IVS5-91G>A SNP is associated with susceptibility to epilepsy. SNPs in EPHX1 gene are influencing CBZ metabolism and disposition PMID:26555147

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HGNC: 10585

UNIGENE: Hs.22654

KEGG: hsa:6323

STRING: 9606.ENSP00000303540

OMIM: 182389