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Human Disease

episodic kinesigenic dyskinesia 1

Term ID
DOID:0090053
Synonyms
  • Paroxysmal kinesigenic choreoathetosis
Definition
A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (2)
References
Ontology
Human Disease   ( DOID:0090053 )
Relationships
is a type of
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Genes Involved
Zebrafish Models