Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene. [5][6][7][8] The SCN1A gene is located on chromosome 2 of humans, …

2007年11月29日 · SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to …

SCN1A (sodium voltage-gated channel alpha subunit 1) is a gene that provides instructions for making one part of a sodium channel called NaV1.1. These channels control the flow of …

About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in …

The SCN1A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.1. These channels are primarily found in the brain, where they control the …

2024年12月25日 · SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) is a Protein Coding gene. Diseases associated with SCN1A include Dravet Syndrome and Migraine, Familial …

SCN1A is the major gene for Dravet Syndrome, a severe epilepsy of childhood most prominently characterized by fever-induced seizures.

2022年2月17日 · Clinical characteristics: SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus …

2025年3月19日 · Dravet syndrome (DS) is a severe and difficult-to-treat epileptic syndrome usually caused by a loss-of-function mutation in SCN1A, which encodes the voltage-gated …

HGNC Approved Gene Symbol: SCN1A. Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38) : 2:165,984,641-166,149,161 (from NCBI) The vertebrate sodium channel is a …