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GENATLAS PHENOTYPE
last update : 04-02-2014
Symbol ECA6
Location 16p13
Name epilepsy, childhood absence, 6
Corresponding gene CACNA1H
Main clinical features
  • 5 to 15% of childhood epilepsies
  • begin at age 6-7 years, in contrast to juvenile absence epilepsy characterize by frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG; generalized tonic-clonic seizures often develop during adolescence
    • Genetic determination multigenic
    Related entries including idiopathic generalized epilepsies
    Function/system disorder neurology
    Type susceptibility factor
    Gene product
    Name calcium channel, voltage-dependent, alpha 1H subunit, susceptibility gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     clustered near segments associated with anomalous splicing, found to destroy, create or change the regulatory specificity of predicted exonic splicing enhancer sequences that may control splicing regulation
    Remark(s)