SCN1A

(redirected from Nav1.1)

SCN1A

A gene on chromosome 2q24.3 that encodes a large alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN1A protein product is expressed in muscle and brain.

Molecular pathology
SCN1A mutations are linked to various seizure and migraine disorders.
References in periodicals archive ?
STK-001 is designed to upregulate NaV1.1 protein expression from the non-mutant (wild type) copy of the SCN1A gene to restore physiological NaV1.1 levels, thereby reducing both occurrence of seizures and significant non-seizure comorbidities.
The researchers then genetically boosted the activity of inhibitory interneurons by adding a protein called Nav1.1. They discovered that the interneurons with enhanced function were able to overcome the toxic disease environment and restore brain function.
According to the company, Dravet Syndrome is mostly caused by heterozygous de novo mutations or gene deletions of SCN1A, a gene encoding a brain voltage-gated sodium channel (Nav1.1).
Haploinsufficency of SCN1A, which encodes the sodium channel Nav1.1, leads to Dravet Syndrome, a severe epilepsy.
A large variety of Nav subtypes from DRG cells, including tetrodotoxin- (TTX-) sensitive channels Nav1.1, Nav1.2, Nav1.6, and Nav1.7 and TTX-resistant channels Nav1.8 and Nav1.9, have been evaluated for involvement in epilepsy [35, 36].
STK-001 is designed to upregulate NaV1.1 protein expression from the non-mutant (wild type) copy of the SCN1Agene to restore physiological NaV1.1 levels, thereby reducing both occurrence of seizures and significant non-seizure comorbidities.
As an example, Stoke has been able to increase productive Scn1a mRNA and resulting Nav1.1 protein levels in mouse models without affecting closely related ion channels.
Tenders are invited for Supply of Anti Nav1.1 Cat No.
In most cases, Dravet Syndrome, which qualifies as a rare pediatric disease under Section 529 of the Food, Drug, and Cosmetic Act, is caused by heterozygous de novo mutations or gene deletions of SCN1A, a gene encoding a brain voltage-gated sodium channel (Nav1.1).