GEFSP6
MCID: GNR013
MIFTS: 17

Generalized Epilepsy with Febrile Seizures Plus, Type 6 (GEFSP6)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 6

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 6:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 6 57 13 70
Generalized Epilepsy with Febrile Seizures Plus 6 12 15
Gefsp6 57 12
Gefs+6 57 12
Epilepsy, Generalized, with Febrile Seizures Plus, Type 6 57
Generalised Epilepsy with Febrile Seizures Plus Type 6 12
Generalized Epilepsy with Febrile Seizures Plus Type 6 12
Generalised Epilepsy with Febrile Seizures Plus 6 12
Gefs+, Type 6; Gefs+6 57
Gefs+, Type 6 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0111300
OMIM® 57 612279
OMIM Phenotypic Series 57 PS604233
MedGen 41 C2677078
UMLS 70 C2677078

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in variation in a region on chromosome 8p23-p21.

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 6, also known as generalized epilepsy with febrile seizures plus 6, is related to generalized epilepsy with febrile seizures plus and febrile seizures, familial, 7. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 6 is GEFSP6 (Generalized Epilepsy With Febrile Seizures Plus, Type 6).

More information from OMIM: 612279 PS604233

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Clinical features from OMIM®:

612279 (Updated 05-Apr-2021)

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 6:

# Title Authors PMID Year
1
A novel locus for generalized epilepsy with febrile seizures plus in French families. 57
18625863 2008

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 6.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 6

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 6

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.62 NAPG MTMR9

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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