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EPRPDC
MCID: EPL138
MIFTS: 15
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Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)
Categories:
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:60
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy (1-2 years) seizures and dystonia peak during childhood HPO:33
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications: |
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MalaCards based summary
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Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp, also known as epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp, is related to dystonia, and has symptoms including dystonia An important gene associated with Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp is EPRPDC (Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp). Related phenotypes are horizontal nystagmus and paroxysmal dystonia
Description from OMIM:
608105
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Diseases related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp via text searches within MalaCards or GeneCards Suite gene sharing:
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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:60 33 (show all 8)
Symptoms via clinical synopsis from OMIM:58Clinical 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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Genes related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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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