SCN1A

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SCN1A

A gene on chromosome 2q24.3 that encodes a large alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN1A protein product is expressed in muscle and brain.

Molecular pathology
SCN1A mutations are linked to various seizure and migraine disorders.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
SMEB olgularinda SMEI olgulardaki gibi SCN1A geninde mutasyon izlenir ve klinik beklenti tipik olgularla benzerdir.
- Comprehensive top line data, research findings and observations from our collaborative partners such as IMS Health, Kantar Health, Nicholas Hall, ZS Associates, Rubicon Strategy Group and RDPAC, as well as other reputable sources including the Chinese Pharmaceutical Association, SMEI, CPIIC and Sinohealth.
SMEI is intended to provide a snapshot of the business environment and outlook for China SMEs based on information drawn from monthly surveys of more than 600 SMEs across a range of sectors and locations, based on their contributions to the economy.
(2006) Preliminary three-dimensional analysis of the heliospheric response to the 28 October 2003 CME using SMEI white-light observations.
Fue directivo gremial y miembro de varias Juntas Directivas de instituciones y/o empresas: Vicepresidente de la Federacion Colombiana de Dirigentes de Ventas y Mercadotecnia, Presidente de Diriventas Bogota, Vicepresidente para Latinoamerica de Sales and Marketing Executive International SMEI, Presidente de la Junta Directiva de Fenalco; Idema, Carulla Vivero, Camara de Comercio de Bogota, Incolda, entre otros (EL TIEMPO, 2005a; EL TIEMPO, 2005b).
She is an active volunteer and fundraiser for the YMCA and serves on the board of the SMEI Academy of Achievement, Psi Sigma Epsilon, and the Business Marketing Association.
SMEI has major music labels such as Arista Records, Columbia Records, and Epic Records, listing internationally acclaimed musicians including Celine Dion, Alicia Keys and Yo-Yo Ma on its roster of artists.
The first test to be launched under this programme will identify cases of severe myoclonic epilepsy in infants (SMEI) - a serious form of epilepsy in children.