Generalized Epilepsy with Febrile Seizures Plus, Type 8 (GEFSP8)

External Ids:

Disease Ontology 12 DOID:0111299 OMIM® 57 613828

OMIM Phenotypic Series 57 PS604233 UMLS 71 C3151191

OMIM® : ⁵⁷ Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by Poduri et al., 2009). For a discussion of genetic heterogeneity of GEFS+, see 604233. (613828) (Updated 05-Mar-2021)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 8, also known as gefsp8, is related to generalized epilepsy with febrile seizures plus. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 8 is GEFSP8 (Generalized Epilepsy With Febrile Seizures Plus, Type 8).

Disease Ontology : ¹² A generalized epilepsy with febrile seizures plus that has material basis in variation in a region on chromosome 6q16.3-q22.31.

Clinical features from OMIM®:

613828 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 8.