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MCID: EPL138
MIFTS: 15
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Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp
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:
Name: Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp
57
Characteristics:Orphanet epidemiological data:59
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy (1-2 years) seizures and dystonia peak during childhood HPO:32
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, is also known as epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp, 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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Symptoms & Phenotypes for Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:608105Human phenotypes related to Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp:59 32 (show all 8)
UMLS 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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