| Metadata | |
|---|---|
| ID | DOID:0111645 |
| Name | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EPRPDC [EXACT] RE-PED-WC [EXACT] Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp [EXACT] Rolandic-type focal motor epilepsy and exercise-induced dystonia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |