episodic ataxia type 1

Term ID

DOID:0050989

Synonyms

Definition

An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. https://www.omim.org/entry/160120

References

• OMIM:160120

Ontology

Human Disease   ( DOID:0050989 )