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

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neurodevelopmental disorder (154) Human disease (15) Hereditary neurological disease (6) Atactic disorder (5) Complex neurodevelopmental disorder (3) Disease of genetic or genomic mechanism (2) Hereditary ataxia (2)

Trials to join now! 1 Completed 2

Could a simple amino acid ease rare brain disorders?

Symptom relief Recruiting now

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

Phase 3 • Sponsor: IntraBio Inc • Aim: Symptom relief

Last updated Sep 09, 2026 16:00 UTC

Episodic ataxia type 2

Broader categories

Could a simple amino acid ease rare brain disorders?