OBO ID: DOID:0050989
Term Name: episodic ataxia type 1 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0050989 )
Relationships
is a type of:
OTHER episodic ataxia type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNA1 Episodic ataxia/myokymia syndrome 160120
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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