Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.[5][6][7][8]
^ abcGRCh38: Ensembl release 89: ENSG00000144285 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000064329 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: SCN1A sodium channel, voltage-gated, type I, alpha subunit".
^Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, et al. (1994). "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24". Cytogenetics and Cell Genetics. 67 (3): 178–86. doi:10.1159/000133818. PMID 8062593.
^Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, et al. (January 2002). "Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A". Epilepsy Research. 48 (1–2): 15–23. doi:10.1016/S0920-1211(01)00313-8. PMID 11823106. S2CID 25555020.
^Catterall WA, Goldin AL, Waxman SG (December 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.
channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene. The SCN1A gene is located on chromosome 2 of humans...
mutations in the SCN1A gene, but it can also be found in patients with other mutations. Likewise, the presence of a mutation in the SCN1A gene does not necessarily...
Known causative gene mutations are in the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and in a GABAA receptor γ subunit gene,...
FHM and is caused by mutations in a sodium channel α-subunit coding gene, SCN1A. These three subtypes do not account for all cases of FHM, suggesting the...
Lossin C. "SCN1A infobase". Archived from the original on 2011-07-21. Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter...
gene CACNA1C have been identified with LQT8. The sodium ion channel genes SCN1A, SCN1B, SCN2A, and SCN8A and the potassium channel KCNA1 have been implicated...
Oracle Database Thiocyanate, an organic compound in the cyanate family SCN1A to SCN11A, and SCN2B to SCN4B, sodium channel genes and beta subunits Severe...
syndrome, which is an epilepsy disorder, CRISPR has been used to correct the SCN1A gene mutation. Despite the progress that has been made, there are still...
Known causative genes for GEFS+ are the sodium channel α subunit genes SCN1A and SCN2A and the β subunit gene SCN1B. Mutations in the GABAA receptor...
whose associated disorders have more robust incidence estimates, such as SCN1A for Dravet syndrome. CDD is a rare condition although >1,000 cases have...
transcriptional activators to the promoter region of the sodium channel gene Scn1a in interneurons. Magnetofection is done through the use of super paramagnetic...
been reported. There is a high prevalence of febrile seizures (about 17%). SCN1A mutations have been reported in a child and in 2 siblings with relatively...
Reichert, J.; Buxbaum, J. D.; Meisler, M. H. (2003-02-01). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–194...
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