EIG10
MCID: EPL209
MIFTS: 32
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Epilepsy, Idiopathic Generalized 10 (EIG10)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 10:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
highly variable phenotype onset of febrile seizures typically between 6 months and 6 years of age simple febrile seizures usually remit by age 6 years some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+) some patients have juvenile-onset myoclonic epilepsy HPO:31Classifications: |
UniProtKB/Swiss-Prot :
73
Epilepsy, idiopathic generalized 10: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Generalized epilepsy with febrile seizures plus 5: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Juvenile myoclonic epilepsy 7: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. MalaCards based summary : Epilepsy, Idiopathic Generalized 10, also known as eig10, is related to epilepsy, idiopathic generalized 13 and epilepsy, juvenile myoclonic 10, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Idiopathic Generalized 10 is GABRD (Gamma-Aminobutyric Acid Type A Receptor Subunit Delta). Affiliated tissues include eye, and related phenotypes are focal-onset seizure and bilateral tonic-clonic seizure Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in variation in the GABRD on chromosome 1p36.33. OMIM® : 57 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770. (613060) (Updated 05-Mar-2021) |
Human phenotypes related to Epilepsy, Idiopathic Generalized 10:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613060 (Updated 05-Mar-2021)UMLS symptoms related to Epilepsy, Idiopathic Generalized 10:myoclonus, absence seizures |
Interventional clinical trials:
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MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 10:40
Eye
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Articles related to Epilepsy, Idiopathic Generalized 10:(show all 18)
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ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 10:6
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 10:73
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GEO
for disease gene expression data for Epilepsy, Idiopathic Generalized 10.
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