GEFSP8
MCID: GNR042
MIFTS: 16

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

Categories: Eye diseases, 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 56 13 71
Gefsp8 56 12
Gefs+8 56 12
Epilepsy, Generalized, with Febrile Seizures Plus, Type 8 56
Generalised Epilepsy with Febrile Seizures Plus Type 8 12
Generalized Epilepsy with Febrile Seizures Plus Type 8 12
Generalized Epilepsy with Febrile Seizures Plus 8 12
Generalised Epilepsy with Febrile Seizures Plus 8 12
Gefs+, Type 8; Gefs+8 56
Gefs+, Type 8 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0111299
OMIM 56 613828
OMIM Phenotypic Series 56 PS604233
UMLS 71 C3151191

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 8

OMIM : 56 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 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). Affiliated tissues include temporal lobe.

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.

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

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

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 8

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 8:

40
Temporal Lobe

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 8:

# Title Authors PMID Year
1
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6
20437590 2010
2
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. 56
19841378 2009
3
SCN1A Seizure Disorders 6
20301494 2007
4
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
5
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 6
16205844 2005
6
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 6
15710580 2005

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 8

Expression 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.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 8

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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