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GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/gain of function

Remark(s)

cells expressing P290R SLC1A3 exhibit larger anion currents than wild-type cells, modifies opening and closing, and not anion permeation (PMID: 23107647))