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GENATLAS PHENOTYPE
last update : 05-05-2015
Symbol EA8
Location 1p36.13
Name episodic ataxia, type 8
Corresponding gene UBR4
Main clinical features
  • onset of episodic ataxia in the second year of life as they were learning to walk
  • attacks were characterized by unsteady gait, generalized weakness, and slurred speech
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s)