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GENATLAS PHENOTYPE

last update : 04-02-2014

Symbol	ECA5
Location	15q12
Name	epilepsy, childhood absence, 5
Corresponding gene	GABRB3
Main clinical features	childhood absence epilepsy with incomplete penetrance age at onset ranged from 2 to 11 years and was characterized by staring, often with eyelid myoclonias and photic sensitivity
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	susceptibility factor

Remark(s)

. G32R mutation reduced current density by a mechanism that was independent of increasing Asn-33 glycosylation and furthermore that this region of the N-terminal alpha-helix could play a role in channel gating (PMID: 22303015))