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GENATLAS PHENOTYPE
last update : 8/09/2006
Symbol SCA13
Location 19q13
HGNC id 10552
Name spinocerebellar ataxia 13
Corresponding gene KCNC3
Main clinical features
  • progressive childhood-onset cerebellar gait ataxia with cerebellar dysarthria, moderate mental retardation, nystagmus
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function KCNC3(R420H) and KCNC3(F448L) are expected to change the output characteristics of fast-spiking cerebellar neurons, in which KCNC channels confer capacity for high-frequency firing
    Remark(s)