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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 TBC1D24 on chromosome 16p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/31257402
Xrefs

OMIM:608105

ORDO:163727

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

is_a autosomal recessive disease

is_a infancy electroclinical syndrome

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