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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. Additionally we are shipping Sodium Channel, Voltage-Gated, Type III, alpha Subunit Proteins (6) and many more products for this protein.
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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 (show PHEX Antibodies) mice display increased seizure susceptibility, hypoactivity, and impaired motor learning.
Scn3a was mapped to the QTL for febrile seizure susceptibility.
a huge difference in electrophysiological function between SCN1A (show SCN1A Antibodies) and SCN3A mutations in the pore region; this might explain the more common SCN1A (show SCN1A Antibodies) mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations
these findings suggest that CpG methylation and MBD2 (show MBD2 Antibodies) are involved in altering Scn3a expression during postnatal development and seizure condition.
These results suggest that the GC box and CpG methylation might play important roles in regulating mouse Scn3a gene expression.
These data demonstrate that Nav1.3 is neither necessary nor sufficient for the development of nerve-injury related pain.
SCN2A (show SCN2A Antibodies), SCN3A, and SCN9A (show SCN9A Antibodies) are expressed beneath tight junctions in subsets of taste cells. SCN3A and SCN9A (show SCN9A Antibodies) are expressed in TRPM5 (show TRPM5 Antibodies) cells, while SCN2A (show SCN2A Antibodies) was expressed in TRPM5 (show TRPM5 Antibodies) and PKD2L1 (show PKD2L1 Antibodies) cells.
sodium channel currents in oocytes expressing either wild-type or mutant (A4V) SOD1 (show SOD1 Antibodies) protein
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 (show SCN2A Antibodies) has an effect on epilepsy pathogenesis.
Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy.
Our data from the Hong Kong and Malaysia cohorts showed no significant allele, genotype and haplotype association of polymorphisms in the SCN1A (show SCN1A Antibodies), SCN2A (show SCN2A Antibodies), and SCN3A genes with drug responsiveness in epilepsy.
This study demonistrated that associated with a duplication of the SCN2A (show SCN2A Antibodies) and SCN3A gene cluster on 2q24 in patient with early onset epilepsy.
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.
Deletions in SCN3A gene is associated with autistic features and developmental delay.
In trigeminal neuralgia (TN) there is a reduction in the expression of Nav1.7 (show SCN9A Antibodies) and an increase in the expression of Nav1.3, Nav1.8 (show SCN10A Antibodies) expression not significantly different; TN can be, at least in part, a channelopathy.
in autism families, two polymorphic coding variants of SCN3A are described
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.
sodium channel, voltage-gated, type III, alpha subunit
, sodium channel, voltage-gated, type III, alpha polypeptide
, sodium channel protein brain III subunit alpha
, sodium channel protein type 3 subunit alpha
, sodium channel protein type III subunit alpha
, sodium channel protein, brain III subunit alpha
, sodium channel, voltage-gated, type 3, alpha subunit
, voltage-gated sodium channel subtype III
, voltage-gated sodium channel subunit alpha Nav1.3
, brain III voltage-gated sodium channel
, voltage-dependent sodium channel SCN3A