GEFSP8
MCID: GNR042
MIFTS: 13
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Generalized Epilepsy with Febrile Seizures Plus, Type 8 (GEFSP8)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 8:
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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. |
Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:
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Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 8:
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Search
GEO
for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 8.
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