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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))