anti-Sodium Channel, Voltage-Gated, Type III, alpha Subunit (SCN3A) Antibodies

Mouse (Murine) Sodium Channel, Voltage-Gated, Type III, alpha Subunit (SCN3A) interaction partners

1. Novel de novo variant SCN3A-L247P was demonstrated to cause a defect in trafficking, which would be predicted to functionally reduce SCN3A activity. Consistent with the clinical observations, Scn3a+/Hyp mice display increased seizure susceptibility, hypoactivity, and impaired motor learning.

2. Scn3a was mapped to the QTL for febrile seizure susceptibility.

3. a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region; this might explain the more common SCN1A mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations

4. these findings suggest that CpG methylation and MBD2 are involved in altering Scn3a expression during postnatal development and seizure condition.

5. 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

6. These results suggest that the GC box and CpG methylation might play important roles in regulating mouse Scn3a gene expression.

7. These data demonstrate that Nav1.3 is neither necessary nor sufficient for the development of nerve-injury related pain.

8. SCN2A, SCN3A, and SCN9A are expressed beneath tight junctions in subsets of taste cells. SCN3A and SCN9A are expressed in TRPM5 cells, while SCN2A was expressed in TRPM5 and PKD2L1 cells.

Human Sodium Channel, Voltage-Gated, Type III, alpha Subunit (SCN3A) interaction partners

1. SCN3A is involved in development of the human brain and oral motor development. When SCN3A is mutated, patients present with polymicrogyria and speech deficits.

2. Novel de novo variant SCN3A-L247P was demonstrated to cause a defect in trafficking, which would be predicted to functionally reduce SCN3A activity. Consistent with the clinical observations, Scn3a+/Hyp mice display increased seizure susceptibility, hypoactivity, and impaired motor learning.

3. sodium channel currents in oocytes expressing either wild-type or mutant (A4V) SOD1 protein

4. Data indicate eight new cases with overlapping duplications at 2q24 and SCN3A was not involved in duplication, suggesting that having an extra copy of SCN2A has an effect on epilepsy pathogenesis.

5. 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

6. Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy.

7. sodium channel polymorphisms are associated with epilepsy

8. Our data from the Hong Kong and Malaysia cohorts showed no significant allele, genotype and haplotype association of polymorphisms in the SCN1A, SCN2A, and SCN3A genes with drug responsiveness in epilepsy.

9. This study demonistrated that associated with a duplication of the SCN2A and SCN3A gene cluster on 2q24 in patient with early onset epilepsy.

10. Upregulation of Nav1.3 protein and a specific cellular distribution of Nav1.3 proteins in focal cortical dysplasia type IIb(FCDIIb) lesion tissue samples suggest that Nav1.3 may be involved in the generation of epileptic activity in FCDIIb.

11. Deletions in SCN3A gene is associated with autistic features and developmental delay.

12. In trigeminal neuralgia (TN) there is a reduction in the expression of Nav1.7 and an increase in the expression of Nav1.3, Nav1.8 expression not significantly different; TN can be, at least in part, a channelopathy.

13. in autism families, two polymorphic coding variants of SCN3A are described

14. Characterization of 5' untranslated regions SCN3A, and identification of cis-conserved noncoding sequences.

15. The association of antiepileptic drugs responsiveness with genetic polymorphisms was investigated and any association with mRNA expression of the neuronal sodium channels was correlated.