ZFIN Human Disease: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

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 the TBC1D24 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/31257402
References:	OMIM:608105 ORDO:163727
Ontology:	Human Disease ( DOID:0111645 )

Relationships

is a type of:	autosomal recessive disease infancy electroclinical syndrome autosomal recessive disease infancy electroclinical syndrome Show first 5 Terms

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

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBC1D24	tbc1d24	Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp	608105

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None