Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (DOID:0111645)
Alliance: disease page
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
Alt IDs: OMIM:608105, ORDO:163727
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.