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episodic ataxia


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A range of disorders characterized by intermittent episodes of ataxia, often accompanied by other neurological disturbances. Episodic ataxia type 1 (EA1) is caused by mutation in the potassium channel gene KCNA1; type 2 (EA2) by mutation in the calcium ion channel gene CACNA1A; type 3 has been linked to a locus on chromosome 1; type 4 (periodic vestibulocerebellar ataxia) is autosomally dominant but as yet unlinked; type 5 (EA5) is caused by mutation in the calcium ion channel gene CACNB4; type 6 (EA6) by mutation in the SLC1A3 glutamate-transporter gene and type 7 has been mapped to chromosome 19q13.

Subjects: Medicine and Health.


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