GEFSP4
MCID: GNR040
MIFTS: 24

Generalized Epilepsy with Febrile Seizures Plus, Type 4 (GEFSP4)

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

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 4

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 4:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 4 56 71
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 56 13
Generalized Epilepsy with Febrile Seizures Plus 4 12 15
Gefsp4 56 12
Gefs+4 56 12
Generalised Epilepsy with Febrile Seizures Plus Type 4 12
Generalized Epilepsy with Febrile Seizures Plus Type 4 12
Generalised Epilepsy with Febrile Seizures Plus 4 12
Gefs+, Type 4; Gefs+4 56
Gefs+, Type 4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset 6 months to 2.5 years
genetic heterogeneity (see gefs+, )
see also febrile seizures (feb1, )


HPO:

31
generalized epilepsy with febrile seizures plus, type 4:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0111293
OMIM 56 609800
OMIM Phenotypic Series 56 PS604233
MedGen 41 C1853345
SNOMED-CT via HPO 68 263681008 41497008 54200006
UMLS 71 C1853345

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in variation in a region on chromosome 2p24.

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 4, also known as epilepsy, generalized, with febrile seizures plus, type 4, is related to generalized epilepsy with febrile seizures plus and generalized epilepsy with febrile seizures plus, type 2. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 4 is GEFSP4 (Epilepsy, Generalized, With Febrile Seizures Plus, Type 4). Affiliated tissues include temporal lobe, and related phenotypes are bilateral tonic-clonic seizure and febrile seizure (within the age range of 3 months to 6 years)

More information from OMIM: 609800 PS604233

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 4

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:

31
# Description HPO Frequency HPO Source Accession
1 bilateral tonic-clonic seizure 31 HP:0002069
2 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
seizures usually last less than 15 minutes
patients show normal psychomotor development
seizures usually occur less than 3 times
more

Clinical features from OMIM:

609800

GenomeRNAi Phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 8.8 ARFGEF1 KCNS3 TBC1D22A

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 4

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:

40
Temporal Lobe

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 4:

# Title Authors PMID Year
1
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6
20437590 2010
2
SCN1A Seizure Disorders 6
20301494 2007
3
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 6
17020904 2007
4
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus. 56
15827091 2005
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 4

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 4.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 4

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 4

Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 KCNS3 GABRD

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 4

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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