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episodic
/ˌɛpəˈsɑdɪk/
ataxia
/əˈtæksiə/
type
/taɪp/
2
2
Description
episodic ataxia type 2    episodic ataxia characterized by acetazolamide-responsive attacks of ataxia lasting for hours/days (unlike EA1, which lasts up to minutes); caused by mutations in CACNA1A encoding P/Q-type voltage-gated calcium channel CaV2.1

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