EPRPDC
MCID: EPL138
MIFTS: 30
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Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...
MalaCards integrated aliases for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:
Characteristics:Orphanet epidemiological data:58
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy (1-2 years) seizures and dystonia peak during childhood seizures tend to remit with age features may be exacerbated by fatigue or stress HPO:31
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
Orphanet: 58
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OMIM :
56
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019). (608105)
MalaCards based summary : Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp, also known as rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, is related to dystonia and benign epilepsy with centrotemporal spikes, and has symptoms including dystonia An important gene associated with Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp is TBC1D24 (TBC1 Domain Family Member 24). Related phenotypes are horizontal nystagmus and writer's cramp Disease Ontology : 12 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. UniProtKB/Swiss-Prot : 73 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp: An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand. |
Symptoms & Phenotypes for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...
Human phenotypes related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:58 31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:608105UMLS symptoms related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:dystonia |
Drugs & Therapeutics for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...
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Articles related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:
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ClinVar genetic disease variations for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:6
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:73
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Search
GEO
for disease gene expression data for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp.
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Cellular components related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp according to GeneCards Suite gene sharing:
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