Episodic ataxia type 2

MONDO:0007163

A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

Also known as: CACNA1A hereditary episodic ataxia, episodic ataxia type 2, hereditary episodic ataxia caused by mutation in CACNA1A, APCA, Acetazolamide-responsive episodic ataxia syndrome, Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia, Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia, CAPA

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