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

Summary

DOID:0111645 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Disease Ontology 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.

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), infancy electroclinical syndrome (is_a)