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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)