Epilepsy, Idiopathic Generalized 10 (EIG10)

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Disease Ontology 12 DOID:0111292 OMIM® 57 613060 OMIM Phenotypic Series 57 PS254770 PS600669 PS604233 MeSH 44 D003294 D004829 D020190

MedGen 41 C2751603 C3150398 C3150399 C3150401 CN043549 more SNOMED-CT via HPO 68 192992007 230413002 263681008 267581004 29753000 37356005 41497008 432241000124101 50866000 54200006 79631006 more UMLS 70 C0270853 C3501643

UniProtKB/Swiss-Prot : ⁷² 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 20-May-2021)

Clinical features from OMIM®:

613060 (Updated 20-May-2021)

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