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References OMIM Gene GeneReviews HGMD HGNC
last update : 29-01-2009
Symbol EA5
Location 2q22-q23
Name episodic ataxia, type 5
Other name(s) channelopathy
Corresponding gene CACNB4
Main clinical features
  • spells of incoordination and imbalance, often with associated progressive ataxia
  • variably associated with epilepsy, dystonia, hemiplegic migraine, myasthenia and even intermittent coma
  • Genetic determination autosomal dominant
    Related entries EA1-6
    Function/system disorder neurology
    Type disease
    Gene product
    Name ion-channel gene
    Remark(s) the majority of EAs are caused by mutations in the KCNA1 and CACNA1A genes
    Genotype/Phenotype correlations allelic heterogeneity with mutations in CACNB4 causing generalized epilepsy and juvenile myoclonic epilepsy