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MCID: EPL210
MIFTS: 24
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Epilepsy, Progressive Myoclonic, 6
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases
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MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 6:
Characteristics:Orphanet epidemiological data:59
progressive myoclonic epilepsy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset of ataxia between 1 and 3 years of age onset of myoclonus later in childhood some patients become wheelchair-bound in second decade HPO:32
epilepsy, progressive myoclonic, 6:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
34
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OMIM
:
57
Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (614018)
MalaCards based summary : Epilepsy, Progressive Myoclonic, 6, also known as epilepsy, progressive myoclonic 6, is related to gosr2-related progressive myoclonus ataxia, and has symptoms including ataxia, seizures and drop attack. An important gene associated with Epilepsy, Progressive Myoclonic, 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Related phenotypes are ataxia and dysarthria UniProtKB/Swiss-Prot : 75 Epilepsy, progressive myoclonic 6: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. |
Diseases in the Epilepsy, Myoclonic Juvenile family:Diseases related to Epilepsy, Progressive Myoclonic, 6 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614018Human phenotypes related to Epilepsy, Progressive Myoclonic, 6:32 (show all 10)
UMLS symptoms related to Epilepsy, Progressive Myoclonic, 6:ataxia, seizures, drop attack, myoclonus, action, absence seizures |
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Articles related to Epilepsy, Progressive Myoclonic, 6:
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Genes related to Epilepsy, Progressive Myoclonic, 6 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 6:75
ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 6:6
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Search
GEO
for disease gene expression data for Epilepsy, Progressive Myoclonic, 6.
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