SCN3A Antibody

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. PMID: 30146301
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. PMID: 28235671
3. sodium channel currents in oocytes expressing either wild-type or mutant (A4V) SOD1 protein PMID: 27072680
4. Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy. PMID: 24157691
5. 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. PMID: 22494998
6. Deletions in SCN3A gene is associated with autistic features and developmental delay. PMID: 20346423
7. 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. PMID: 19699781
8. in autism families, two polymorphic coding variants of SCN3A are described PMID: 12610651
9. Characterization of 5' untranslated regions SCN3A, and identification of cis-conserved noncoding sequences. PMID: 17544618

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HGNC: 10590

OMIM: 182391

KEGG: hsa:6328

STRING: 9606.ENSP00000283254

UniGene: Hs.435274