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Episodic Ataxia Type 1 (MONDO:0008047)

A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

Overview

Category

Ontology ID

Internal:9370

Synonyms

EA1

Isaacs-Mertens syndrome

KCNA1 hereditary episodic ataxia

acetazolamide-responsive periodic ataxia

ataxia, episodic, with myokymia

continuous muscle fiber activity

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

myokymia with episodic ataxia

myokymia with periodic ataxia

paroxysmal ataxia with neuromyotonia, hereditary

myokymia 1

Mapped terms

DOID:0050989

GARD:0016641

MEDGEN:318554

OMIM:160120

Orphanet:37612

SCTID:421182009

UMLS:C1719788

Child terms

Unknown children.