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Human Disease

paroxysmal nonkinesigenic dyskinesia 3

Term ID
DOID:0070442
Synonyms
  • generalized epilepsy and paroxysmal dyskinesia
Definition
A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (2)
References
Ontology
Human Disease   ( DOID:0070442 )
Relationships
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Genes Involved
Zebrafish Models