Human genes for Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [DOID:0111645]
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 TBC1D24 on chromosome 16p13.3.
Synonyms: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, DOID:0111645, Rolandic epilepsyparoxysmal exerciseinduced dystoniawriters cramp syndrome, Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp disease, Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp disorder ...