Episodic ataxia type 1
Episodic ataxia type 1
Definition
A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Also known as acetazolamide-responsive periodic ataxia, ataxia, episodic, with myokymia, continuous muscle fiber activity, EA1, episodic ataxia with myokymia, episodic ataxia, type 1, episodic ataxia/myokymia syndrome, familial paroxysmal kinesigenic ataxia and continuous myokymia, hereditary episodic ataxia caused by mutation in KCNA1, hereditary paroxysmal ataxia with neuromyotonia, Isaacs-Mertens syndrome, KCNA1 hereditary episodic ataxia, myokymia with episodic ataxia, myokymia with periodic ataxia, paroxysmal ataxia with neuromyotonia, hereditary — per MONDO