Term Name: paroxysmal nonkinesigenic dyskinesia 3
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.
Ontology: Human Disease [DOID:0070442]   ( DOID:0070442 )

Relationships
is a type of: autosomal dominant disease dystonia