Episodic Ataxia Type 1

Preferred Label : Episodic Ataxia Type 1;

NCIt synonyms : Episodic Ataxia with Myokymia; EA1;

NCIt definition : An autosomal dominant form of episodic ataxia caused by mutation(s) in the KCNA1 gene, encoding potassium voltage-gated channel subfamily A member 1.;

Détails

Origin ID

C214852;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]

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