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EPM6
MCID: EPL210
MIFTS: 28
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Epilepsy, Progressive Myoclonic, 6 (EPM6)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 6:
Name: Epilepsy, Progressive Myoclonic, 6
57
71
Characteristics:Orphanet epidemiological data:58
progressive myoclonic epilepsy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
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:31
epilepsy, progressive myoclonic, 6:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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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) (Updated 05-Mar-2021)
MalaCards based summary : Epilepsy, Progressive Myoclonic, 6, also known as epilepsy, progressive myoclonic 6, is related to progressive myoclonus epilepsy 6 and epilepsy, and has symptoms including seizures, ataxia and absence seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Related phenotypes are scoliosis and ataxia UniProtKB/Swiss-Prot : 73 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. |
Human phenotypes related to Epilepsy, Progressive Myoclonic, 6:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614018 (Updated 05-Mar-2021)UMLS symptoms related to Epilepsy, Progressive Myoclonic, 6:seizures, ataxia, absence seizures, myoclonus, action, drop attack |
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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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ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 6:6
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 6:73
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Search
GEO
for disease gene expression data for Epilepsy, Progressive Myoclonic, 6.
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