episodic ataxia type 2
A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
MONDO:0016227
hereditary episodic ataxia
is_a
MONDO:0100254
CACNA1A-related complex neurodevelopmental disorder
is_a
APCA
related
Acetazolamide-responsive episodic ataxia syndrome
related
Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia
related
CACNA1A hereditary episodic ataxia
exact
CAPA
related
EA2
related
Nystagmus-associated episodic ataxia
related
ataxia, familial, paroxysmal
related
episodic ataxia type 2
exact
episodic ataxia with nystagmus
related
episodic ataxia, type 2
related
hereditary episodic ataxia caused by mutation in CACNA1A
exact