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, and is made up of 26 exons spanning a total length of 6030 nucleotide base pairs. [9][10] Alternative splicing of exon 5 gives rise to two alternate exons. [11] .

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 Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end.

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 sodium into cells in the brain (neurons), which is necessary for electrical balance.

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 SCN1A.

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 flow of sodium ions into cells.

2025年3月30日 · SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) is a Protein Coding gene. Diseases associated with SCN1A include Dravet Syndrome and Migraine, Familial Hemiplegic, 3. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

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 (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures ...

Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a hallmark of SCN1A -related epilepsies, the causes of which are yet to be clarified.

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

SCN1A encodes the alpha subunit of the voltage-gated sodium channel, Na V 1.1, and is the gene most strongly associated with epilepsy, implicated in both rare monogenic syndromes and common forms of epilepsy with complex inheritance (1).