Catalog

Episodic ataxia type 1 - KCNA1 mutation

No MMS code

Link to WHO Definition

Episodic ataxia type 1 - KCNA1 mutation – http://id.who.int/icd/entity/2135559917

Episodic ataxia type 1 is a frequent form of hereditary episodic ataxia, characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. It sometimes responds to acetazolamide.