MCID: GNR002
MIFTS: 39

Generalized Epilepsy with Febrile Seizures Plus

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus:

Name: Generalized Epilepsy with Febrile Seizures Plus 12 28 14 69
Gefs+ 12 55
Generalized Epilepsy with Febrile Seizures-Plus 55

Characteristics:

Orphanet epidemiological data:

55
generalized epilepsy with febrile seizures-plus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060170
ICD10 32 G40.3
Orphanet 55 ORPHA36387
UMLS via Orphanet 70 C3502809
ICD10 via Orphanet 33 G40.3
UMLS 69 C3502809

Summaries for Generalized Epilepsy with Febrile Seizures Plus

Disease Ontology : 12 An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, also known as gefs+, is related to generalized epilepsy with febrile seizures plus, type 1 and genetic epilepsy with febrile seizures plus. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 3
Generalized Epilepsy with Febrile Seizures Plus, Type 6 Generalized Epilepsy with Febrile Seizures Plus, Type 8
Generalized Epilepsy with Febrile Seizures Plus, Type 7 Generalized Epilepsy with Febrile Seizures Plus, Type 9

Diseases related to Generalized Epilepsy with Febrile Seizures Plus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 35.0 SCN1A SCN1B
2 genetic epilepsy with febrile seizures plus 33.1 SCN1A SCN9A
3 epilepsy, idiopathic generalized 10 32.2 GABRA1 GABRD GABRG2 KCNQ3 ME2 SCN1A
4 febrile seizures 31.1 ADGRV1 GABRD GABRG2 SCN1A SCN1B SCN9A
5 epileptic encephalopathy, early infantile, 6 30.5 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
6 epilepsy 30.1 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
7 generalized epilepsy with febrile seizures plus, type 2 12.8
8 generalized epilepsy with febrile seizures plus, type 3 12.7
9 generalized epilepsy with febrile seizures plus, type 7 12.7
10 generalized epilepsy with febrile seizures plus, type 9 12.7
11 generalized epilepsy with febrile seizures plus, type 8 12.7
12 generalized epilepsy with febrile seizures plus, type 4 12.5
13 generalized epilepsy with febrile seizures plus, type 6 12.5
14 scn1a-related seizure disorders 11.2
15 myoclonic astatic epilepsy 11.2
16 myoclonic epilepsy of infancy 10.4 GABRG2 SCN1A SCN8A
17 early myoclonic encephalopathy 10.4 GABRG2 SCN1A SCN1B
18 neuronitis 10.4
19 seizure disorder 10.3 KCNQ2 SCN1A SCN2A
20 epilepsy with generalized tonic-clonic seizures 10.3 SCN1A SCN2A TBC1D24
21 malignant migrating partial seizures of infancy 10.3 SCN1A SCN2A TBC1D24
22 deafness, autosomal dominant 16 10.3 SCN2A SCN3A
23 seizures, benign familial neonatal, 2 10.3 KCNQ2 KCNQ3
24 epileptic encephalopathy, early infantile, 1 10.3 KCNQ2 TBC1D24
25 hyperekplexia 10.2 GABRG2 SCN9A TBC1D24
26 benign epilepsy with centrotemporal spikes 10.2 GABRG2 KCNQ2 KCNQ3
27 trigeminal nerve disease 10.2 SCN3A SCN9A
28 benign neonatal seizures 10.2 KCNQ2 KCNQ3 SCN2A
29 mental retardation, x-linked, syndromic, hedera type 10.1 GABRA1 SCN2A
30 trigeminal neuralgia 10.1 SCN3A SCN9A
31 childhood absence epilepsy 10.1 GABRA1 GABRG2 SCN1B
32 epileptic encephalopathy, early infantile, 15 10.1 KCNQ2 KCNQ3 SCN1A SCN2A
33 benign familial infantile epilepsy 10.0 KCNQ2 KCNQ3 SCN2A SCN8A
34 epilepsy, nocturnal frontal lobe, 1 10.0 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
35 autism 10.0
36 benign childhood occipital epilepsy, panayiotopoulos type 10.0
37 west syndrome 10.0 KCNQ2 SCN1A SCN2A SCN8A TBC1D24
38 benign familial neonatal epilepsy 10.0 KCNQ2 KCNQ3 SCN2A TBC1D24
39 childhood electroclinical syndrome 10.0 GABRA1 GABRG2 KCNQ2 TBC1D24
40 focal epilepsy 10.0 GABRD GABRG2 SCN1A SCN3A TBC1D24
41 lennox-gastaut syndrome 10.0 GABRA1 KCNQ2 SCN1A TBC1D24
42 infancy electroclinical syndrome 9.9 GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
43 adolescence-adult electroclinical syndrome 9.9 GABRA1 GABRD GABRG2 SCN1A TBC1D24
44 seizures, benign familial infantile, 3 9.9 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
45 neonatal period electroclinical syndrome 9.9 KCNQ2 KCNQ3 SCN1A SCN2A TBC1D24
46 long qt syndrome 9.8 KCNQ2 KCNQ3 SCN1B
47 epilepsy, idiopathic generalized 8.6 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 ME2

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



Diseases related to Generalized Epilepsy with Febrile Seizures Plus

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus

MGI Mouse Phenotypes related to Generalized Epilepsy with Febrile Seizures Plus:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 SCN3A GABRD SCN8A GABRG2 SCN9A KCNQ2
2 growth/size/body region MP:0005378 9.9 SCN2A GABRA1 SCN3A SCN8A GABRG2 SCN9A
3 mortality/aging MP:0010768 9.77 GABRA1 SCN3A GABRD SCN8A GABRG2 SCN9A
4 nervous system MP:0003631 9.4 GABRA1 GABRD SCN8A GABRG2 SCN9A KCNQ2

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus

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

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus 28

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus

Publications for Generalized Epilepsy with Febrile Seizures Plus

Articles related to Generalized Epilepsy with Febrile Seizures Plus:

(show top 50) (show all 52)
# Title Authors Year
1
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. ( 28704742 )
2017
2
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+). ( 22944210 )
2012
3
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. ( 23158734 )
2012
4
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. ( 21843600 )
2011
5
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. ( 21156207 )
2011
6
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488289 )
2010
7
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. ( 20117752 )
2010
8
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. ( 20600615 )
2010
9
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488261 )
2010
10
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. ( 20452746 )
2010
11
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488258 )
2010
12
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. ( 20367785 )
2010
13
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488303 )
2010
14
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. ( 19261880 )
2009
15
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. ( 19236456 )
2009
16
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
17
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. ( 19951487 )
2009
18
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. ( 19409490 )
2009
19
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? ( 19203856 )
2009
20
A novel locus for generalized epilepsy with febrile seizures plus in French families. ( 18625863 )
2008
21
[Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. ( 19171087 )
2008
22
[Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. ( 18458705 )
2008
23
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. ( 18846618 )
2008
24
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. ( 19065515 )
2008
25
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. ( 18566737 )
2008
26
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. ( 18846619 )
2008
27
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. ( 17629415 )
2007
28
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). ( 15508917 )
2005
29
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). ( 16359471 )
2005
30
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
31
[Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. ( 16053169 )
2005
32
Autism in several members of a family with generalized epilepsy with febrile seizures plus. ( 15605469 )
2004
33
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. ( 14738422 )
2004
34
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. ( 14702334 )
2004
35
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. ( 12535936 )
2003
36
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). ( 12576172 )
2003
37
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. ( 12919402 )
2003
38
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. ( 11748509 )
2002
39
Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). ( 12060016 )
2002
40
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. ( 12011299 )
2002
41
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. ( 12486163 )
2002
42
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. ( 11591834 )
2001
43
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. ( 11756608 )
2001
44
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. ( 11313220 )
2001
45
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. ( 11254444 )
2001
46
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. ( 11567038 )
2001
47
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. ( 11254445 )
2001
48
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. ( 10677328 )
2000
49
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. ( 10486327 )
1999
50
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. ( 10521305 )
1999

Variations for Generalized Epilepsy with Febrile Seizures Plus

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558

Expression for Generalized Epilepsy with Febrile Seizures Plus

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

Pathways for Generalized Epilepsy with Febrile Seizures Plus

Pathways related to Generalized Epilepsy with Febrile Seizures Plus according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
2
Show member pathways
12.84 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
3
Show member pathways
12.66 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
4
Show member pathways
12.44 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
5 12.27 KCNQ2 SCN1A SCN1B SCN2A SCN8A SCN9A
6
Show member pathways
11.82 GABRA1 SCN2A SCN3A SCN9A
7
Show member pathways
11.65 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
8
Show member pathways
11.51 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
9 11.26 GABRA1 GABRD GABRG2
10
Show member pathways
10.77 GABRA1 GABRG2
11 10.73 GABRA1 GABRD GABRG2
12 10.7 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A

GO Terms for Generalized Epilepsy with Febrile Seizures Plus

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.81 GABRG2 SCN1A SCN2A STX1B
2 chloride channel complex GO:0034707 9.63 GABRA1 GABRD GABRG2
3 intercalated disc GO:0014704 9.61 SCN1A SCN1B SCN2A
4 T-tubule GO:0030315 9.58 SCN1A SCN1B SCN2A
5 GABA-A receptor complex GO:1902711 9.54 GABRA1 GABRD GABRG2
6 axon initial segment GO:0043194 9.46 KCNQ2 KCNQ3 SCN1A SCN8A
7 sodium channel complex GO:0034706 9.43 SCN1A SCN1B SCN2A
8 node of Ranvier GO:0033268 9.43 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
9 voltage-gated sodium channel complex GO:0001518 9.1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
10 integral component of membrane GO:0016021 10.32 ADGRV1 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3
11 plasma membrane GO:0005886 10.2 ADGRV1 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3
12 integral component of plasma membrane GO:0005887 10.04 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN2A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.93 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
2 sodium ion transmembrane transport GO:0035725 9.91 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
3 ion transport GO:0006811 9.9 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
4 chemical synaptic transmission GO:0007268 9.89 GABRD GABRG2 KCNQ2 KCNQ3 SCN1B
5 regulation of ion transmembrane transport GO:0034765 9.86 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
6 neuronal action potential GO:0019228 9.8 SCN1A SCN2A SCN3A SCN8A SCN9A
7 chloride transmembrane transport GO:1902476 9.73 GABRA1 GABRD GABRG2
8 chloride transport GO:0006821 9.72 GABRA1 GABRD GABRG2
9 membrane depolarization during action potential GO:0086010 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
10 ion transmembrane transport GO:0034220 9.61 GABRA1 GABRD GABRG2 KCNQ2 SCN1A SCN2A
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.58 GABRA1 GABRG2
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.57 SCN1A SCN1B
13 cellular response to histamine GO:0071420 9.54 GABRA1 GABRG2
14 neuronal action potential propagation GO:0019227 9.52 SCN1A SCN1B
15 synaptic transmission, GABAergic GO:0051932 9.51 GABRA1 GABRG2
16 regulation of postsynaptic membrane potential GO:0060078 9.17 GABRA1 SCN1A SCN1B SCN2A SCN3A SCN8A
17 transport GO:0006810 10.26 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
18 transmembrane transport GO:0055085 10.07 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.76 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
2 sodium channel activity GO:0005272 9.73 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
3 chloride channel activity GO:0005254 9.58 GABRA1 GABRD GABRG2
4 ion channel activity GO:0005216 9.56 GABRA1 GABRD GABRG2 SCN1A SCN2A SCN3A
5 extracellular ligand-gated ion channel activity GO:0005230 9.54 GABRA1 GABRD GABRG2
6 GABA-A receptor activity GO:0004890 9.5 GABRA1 GABRD GABRG2
7 voltage-gated sodium channel activity GO:0005248 9.1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A

Sources for Generalized Epilepsy with Febrile Seizures Plus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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