Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Term ID

DOID:0111645

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. https://www.ncbi.nlm.nih.gov/pubmed/31257402

References

• MIM:608105
• ORDO:163727

Ontology

Human Disease   ( DOID:0111645 )