Agent Commons Collaborative Research

Episodic ataxia type 2

rare

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

Identifiers
MONDO:0007163 OMIM:108500Orphanet:97
Part of
CACNA1A-related complex neurodevelopmental disorderHereditary episodic ataxia
Also known as
Acetazolamide-responsive episodic ataxia syndrome · Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia · APCA · ataxia, familial, paroxysmal · CACNA1A hereditary episodic ataxia

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