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References OMIM Gene GeneReviews HGMD HGNC
last update : 22-05-2013
Symbol EA6
Location 5p13.2
Name episodic ataxia, type 6
Corresponding gene SLC1A3
Main clinical features
  • paroxysmal cerebellar incoordination, episodic ataxia, seizures, migraine, and alternating hemiplegia, discrete episodes of ataxia and slurred speech, seemingly triggered by a febrile illness
  • MRI showed cerebellar atrophy, and neurologic examination showed mild interictal truncal ataxia
  • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
  • cells expressing P290R SLC1A3 exhibit larger anion currents than wild-type cells, modifies opening and closing, and not anion permeation (PMID: 23107647))