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DEE11

Chr 2AD

sodium voltage-gated channel alpha subunit 2

Also known as: BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI

NCBI Gene: 6326 OMIM: 613721

This gene encodes a voltage-gated sodium channel alpha subunit that generates and propagates action potentials in neurons and muscle. Mutations cause developmental and epileptic encephalopathy 11, a severe early-onset seizure disorder with developmental impairment. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

OMIM ResearchGenerating clinical summary…