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disease: Episodic ataxia, type 6

id1185
nameEpisodic ataxia, type 6
descriptionThe hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.
variant-disease NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) AND Episodic ataxia, type 6
NM_004172.5(SLC1A3):c.869C>G (p.Pro290Arg) AND Episodic ataxia, type 6
NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser) AND Episodic ataxia, type 6
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) AND Episodic ataxia, type 6