MCID: GNR042
MIFTS: 13

Generalized Epilepsy with Febrile Seizures Plus, Type 8

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 8

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 8:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 8 57 13 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 8 57
Gefs+, Type 8; Gefs+8 57
Gefs+, Type 8 57
Gefsp8 57
Gefs+8 57

Classifications:



External Ids:

OMIM 57 613828
UMLS 73 C3151191

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 8

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)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 8, also known as epilepsy, generalized, with febrile seizures plus, type 8, 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).

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Clinical features from OMIM:

613828

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 8

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Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 8

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GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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