Conditions / Genetic
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
info · Genetic
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.
Signs and symptoms
- Paroxysmal dystonia
- Focal motor seizure
- Hand tremor
- Writer's cramp
- Nystagmus
- Focal hemifacial clonic seizure
- Prolonged somatosensory evoked potentials
- Horizontal nystagmus
- Myoclonus
- Dysarthria
Also known as: EPRPDC; RE-PED-WC; Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp; Rolandic-type focal motor epilepsy and exercise-induced dystonia