MCID: GNT046
MIFTS: 24

Genetic Epilepsy with Febrile Seizures Plus

Aliases & Classifications for Genetic Epilepsy with Febrile Seizures Plus

MalaCards integrated aliases for Genetic Epilepsy with Febrile Seizures Plus:

Name: Genetic Epilepsy with Febrile Seizures Plus 25
Generalized Epilepsy with Febrile Seizures Plus 25 73
Gefs+ 25

External Ids:

UMLS 73 C3502809

Summaries for Genetic Epilepsy with Febrile Seizures Plus

Genetics Home Reference : 25 Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are not related to fevers (afebrile seizures). The additional seizure types usually involve both sides of the brain (generalized seizures); however, seizures that involve only one side of the brain (partial seizures) occur in some affected individuals. The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for short periods that appear as staring spells.

MalaCards based summary : Genetic Epilepsy with Febrile Seizures Plus, also known as generalized epilepsy with febrile seizures plus, is related to generalized epilepsy with febrile seizures plus and febrile seizures. An important gene associated with Genetic Epilepsy with Febrile Seizures Plus is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Affiliated tissues include brain.

Related Diseases for Genetic Epilepsy with Febrile Seizures Plus

Graphical network of the top 20 diseases related to Genetic Epilepsy with Febrile Seizures Plus:



Diseases related to Genetic Epilepsy with Febrile Seizures Plus

Symptoms & Phenotypes for Genetic Epilepsy with Febrile Seizures Plus

Drugs & Therapeutics for Genetic Epilepsy with Febrile Seizures Plus

Search Clinical Trials , NIH Clinical Center for Genetic Epilepsy with Febrile Seizures Plus

Genetic Tests for Genetic Epilepsy with Febrile Seizures Plus

Anatomical Context for Genetic Epilepsy with Febrile Seizures Plus

MalaCards organs/tissues related to Genetic Epilepsy with Febrile Seizures Plus:

41
Brain

Publications for Genetic Epilepsy with Febrile Seizures Plus

Articles related to Genetic Epilepsy with Febrile Seizures Plus:

(show top 50) (show all 72)
# Title Authors Year
1
[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. ( 29429462 )
2018
2
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. ( 29635106 )
2018
3
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus? ( 29454195 )
2018
4
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. ( 28704742 )
2017
5
Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS(+)) accompanying seizures with impaired consciousness. ( 28070485 )
2017
6
Genetic epilepsy with febrile seizures plus: Refining the spectrum. ( 28842445 )
2017
7
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). ( 28951233 )
2017
8
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? ( 27810516 )
2016
9
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. ( 25795284 )
2015
10
Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+). ( 25917466 )
2015
11
Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report. ( 25874779 )
2014
12
Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus. ( 24257433 )
2014
13
Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). ( 23311867 )
2013
14
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family. ( 24067191 )
2013
15
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. ( 23895530 )
2013
16
Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family. ( 23773973 )
2013
17
Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. ( 22147072 )
2012
18
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient. ( 23248692 )
2012
19
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. ( 23158734 )
2012
20
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+). ( 22944210 )
2012
21
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. ( 21864321 )
2011
22
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. ( 21156207 )
2011
23
Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus. ( 21704126 )
2011
24
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. ( 21843600 )
2011
25
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. ( 20628201 )
2010
26
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. ( 20452746 )
2010
27
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. ( 20367785 )
2010
28
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488289 )
2010
29
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. ( 20117752 )
2010
30
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488261 )
2010
31
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. ( 20600615 )
2010
32
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488258 )
2010
33
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488303 )
2010
34
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. ( 19236456 )
2009
35
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. ( 19409490 )
2009
36
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. ( 19339291 )
2009
37
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. ( 19951487 )
2009
38
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? ( 19203856 )
2009
39
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. ( 19261880 )
2009
40
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. ( 18846619 )
2008
41
[Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. ( 18458705 )
2008
42
A novel locus for generalized epilepsy with febrile seizures plus in French families. ( 18625863 )
2008
43
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. ( 19065515 )
2008
44
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. ( 18566737 )
2008
45
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. ( 18846618 )
2008
46
[Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. ( 19171087 )
2008
47
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. ( 17629415 )
2007
48
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). ( 16359471 )
2005
49
[Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. ( 16053169 )
2005
50
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. ( 15715999 )
2005

Variations for Genetic Epilepsy with Febrile Seizures Plus

Expression for Genetic Epilepsy with Febrile Seizures Plus

Search GEO for disease gene expression data for Genetic Epilepsy with Febrile Seizures Plus.

Pathways for Genetic Epilepsy with Febrile Seizures Plus

GO Terms for Genetic Epilepsy with Febrile Seizures Plus

Cellular components related to Genetic Epilepsy with Febrile Seizures Plus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.16 FGF13 SCN1A
2 intercalated disc GO:0014704 8.96 FGF13 SCN1A
3 voltage-gated sodium channel complex GO:0001518 8.62 SCN1A SCN9A

Biological processes related to Genetic Epilepsy with Febrile Seizures Plus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.37 SCN1A SCN9A
2 regulation of ion transmembrane transport GO:0034765 9.32 SCN1A SCN9A
3 sodium ion transmembrane transport GO:0035725 9.26 SCN1A SCN9A
4 membrane depolarization during action potential GO:0086010 9.16 SCN1A SCN9A
5 neuronal action potential GO:0019228 8.96 SCN1A SCN9A
6 sodium ion transport GO:0006814 8.8 FGF13 SCN1A SCN9A

Molecular functions related to Genetic Epilepsy with Febrile Seizures Plus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.32 SCN1A SCN9A
2 voltage-gated ion channel activity GO:0005244 9.26 SCN1A SCN9A
3 cation channel activity GO:0005261 9.16 SCN1A SCN9A
4 sodium channel activity GO:0005272 8.96 SCN1A SCN9A
5 voltage-gated sodium channel activity GO:0005248 8.62 SCN1A SCN9A

Sources for Genetic Epilepsy with Febrile Seizures Plus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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