The SCN1A gene encodes the sodium channel alpha 1 subunit (NaV1.1), which is predominantly expressed in the Brain. A lot of SCN1A gene mutations have been found in patients with epilepsy or hemiplegic migraine. In epilepsies with SCN1A mutations, Dravet syndrome is the severest phenotype whereas Febrile seizures (FS) or FS+ is the mildest.
Here, we summarize the SCN1A gene, Na⁺ channel and SCN1A-related disorders.
You can search for variants by their genomic position (hg19), cds position (NM_001165963.1), amino acid position (NP_001159435.1), amino acid type alteration, number of exons or Introns, protein domain, variant classification, clinical diagnosis, age of seizure onset, or through a combination of them. When you select one variant, you can see more details about it.
Due to copyright, we could not upload data sets produced by annotation programs.We can provide all of our data sets to faithful researchers.
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