anti-Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) Antibodies

Mouse (Murine) Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) interaction partners

1. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.

2. Rer1 controls the assembly and transport of Nav1.1 and 1.6, the principal sodium channels responsible for recurrent firing, in Purkinje cells.

3. selective activation of NaV1.1 by venom peptide Hm1a restores the function of inhibitory interneurons from Dravet syndrome mice without affecting the firing of excitatory neurons.

4. Scn1a was mapped to the QTL for febrile seizure susceptibility.

5. results therefore indicate that, while Nav1.1 is expressed in MEG-derived inhibitory neurons, Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons in addition to excitatory neurons

6. Pharmological manipulation by clobazam, a common anticonvulsant with preferential affinity for the GABRA2 receptor, revealed dose-dependent protection against hyperthermia-induced seizures in Scn1a+/- mice. These findings support Gabra2 as a genetic modifier of the Scn1a+/- mouse model of Dravet syndrome.

7. In this study, we characterized the behavior of heterozygous mice expressing the SCN1A R1648H mutation (Scn1a(RH/+)) and the effect of stress on spontaneous and induced seizures. We also examined the effect of the R1648H mutation on the hypothalamic-pituitary-adrenal (HPA) axis response.

8. findings establish an unexpected role for Nav1.1 channels in regulating the excitability of sensory nerve fibres that mediate mechanical pain

9. Deletion of Nav1.1 channels selectively impairs excitability of GABAergic interneurons

10. the time course of declining expression of the murine embryonic sodium channel Nav 1.3 and the rise in expression of the adult sodium channel Nav 1.1 with susceptibility to epileptic seizures and increased incidence of sudden death

11. Results show Nav1.1 haploinsufficiency in excitatory neurons has an ameliorating effect on the pathology of Dravet syndrome.

12. These data indicate that a disease-causing central nervous system voltage-gated sodium channel mutation confers susceptibility to the proconvulsant, but not motoric, effects of cocaine.

13. These results establish a direct role for SCN1A in the regulation of sleep

14. Loss of NaV1.1 channels in forebrain GABAergic neurons is both necessary and sufficient to cause epilepsy and premature death in Dravet syndrome.

15. mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviours, social interaction deficits and impaired context-dependent spatial memory; results demonstrate a critical role for Na(V)1.1 channels in neuropsychiatric functions and provide a potential therapeutic strategy for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome

16. These results demonstrate increased expression levels of Nav1.7, Nav1.8, and perhaps Nav1.1 in the dorsal root ganglia in mice with a heterozygous mutation of the Nf1 gene

17. Na(V)1.1 channels are expressed in the suprachiasmatic nucleus (SCN) of the hypothalamus.

18. a mechanism consistent with BACE1 activity regulating mRNA levels of the alpha-subunit Na(v)1.1 via cleavage of cell-surface Na(v)beta(2).

19. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome.

20. SCN1A voltage-gated sodium channel has a role in gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities

Human Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) interaction partners

1. Study represents the first evidence of the abnormal changes in voltage-gated sodium channels subtypes (including Nav1.1) and CaM/CaMKII pathway in human brain low-grade astrocytoma, providing new potential targets for molecular therapies of this disease.

2. This study reinforces the importance of somatic mosaicism caused by copy number variations in disease-causing genes, and provides an alternative spectrum of SCN1A mutations causative of DS. Somatic deletions in SCN1A should be considered in cases with DS when standard screenings for SCN1A mutations are apparently negative for mutations.

3. The results of this study suggested that SCN1A rs3812718 polymorphism is associated with the risk of epilepsy.

4. Findings support understanding and updating knowledge on the correlation between phenotype distribution and location and type of mutations in SCN1A-related disorders

5. In 13 Han Chinese pedigrees clinically diagnosed with Dravet syndrome, 11 variants were identified in SCN1A gene among 11 pedigrees including 7 missense mutations, 2 splice site mutations, and 2 frameshift mutations (9 novel variants and 2 reported mutations). Particularly, 2 of these Dravet syndrome patients with SCN1A variants also harbored SCN9A, KCNQ2, or SLC6A8 variants.

6. Our cases represent a novel association between SCN1A and sudden infant death syndrome (SIDS), extending the SCN1A spectrum from epilepsy to SIDS.

7. The effect of Ca(2+), domain-specificity, and CaMKII on CaM binding to NaV1.1 has been reported.

8. This first genetic study of Dravet syndrome in Africa confirms that de novo SCN1A variants underlie disease in the majority of South African patients.

9. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.

10. 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.

11. SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures

12. 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.

13. 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.

14. 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.

15. miR155 may be associated with the risk of seizure and SCN1A may be a target gene of miR155.

16. we report a Chinese familial hemiplegic migraine type 3 family with a novel mutation in the SCN1A gene.

17. 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.

18. The evaluation of an SCN1A mutation.

19. 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.

20. SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.