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.

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] .

SCN1A, a Nav1.1 α subunit composed of 26 coding exons and located in the 85-kb gene region, is the most common epileptic gene and the most common pathogenic gene in the Dravet syndrome (DS), a catastrophic and intractable epileptic encephalopathy (EE) .

scn1a. 基因产物： 钠离子通道 α1亚基。 蛋白功能：主要在脑和周围神经中表达，可与钠离子通道β亚基组成电压门控性钠通道，参与神经递质释放的调节及机械性疼痛的感知。

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.

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 Hemiplegic, 3. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.

2013年7月25日 · Here we present a meta-analysis on the SCN1A gene variants and provide comprehensive information on epilepsy-associated gene variants, their frequency, the predicted effect on the protein, the...

SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). SCN1A disorders also result in other diseases such as hemiplegic migraine and autism spectrum disorder (ASD).

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 ...