Term Name: | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
---|---|
Synonyms: | EPRPDC, RE-PED-WC, Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp, Rolandic-type focal motor epilepsy and exercise-induced dystonia |
Definition: | An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. |
Ontology: | Human Disease [DOID:0111645] ( DOID:0111645 ) |