OBO ID: DOID:0111645
Term Name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Search Ontology:
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 TBC1D24 on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/31257402
References:
Ontology: Human Disease   (DOID:0111645)
OTHER Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBC1D24 Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp 608105
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None