GEFS+
MCID: GNR002
MIFTS: 40

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) malady

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

Aliases & Descriptions for Generalized Epilepsy with Febrile Seizures Plus:

Name: Generalized Epilepsy with Febrile Seizures Plus 12 14 69
Generalized Epilepsy with Febrile Seizures-Plus 56 29
Gefs+ 12 56

Characteristics:

Orphanet epidemiological data:

56
generalized epilepsy with febrile seizures-plus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060170
ICD10 33 G40.3
Orphanet 56 ORPHA36387
ICD10 via Orphanet 34 G40.3

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 generalized epilepsy with febrile seizures-plus, is related to epilepsy, generalized, with febrile seizures plus, type 5 and generalized epilepsy with febrile seizures plus, type 9. 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

Wikipedia : 71 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 Generalized Epilepsy with Febrile Seizures Plus, Type 9
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 32.1 GABRA1 GABRD GABRG2 KCNQ3 ME2 SCN1A
2 generalized epilepsy with febrile seizures plus, type 9 12.6
3 scn9a-related generalized epilepsy with febrile seizures plus 12.3
4 stx1b-related generalized epilepsy with febrile seizures plus 12.3
5 scn1a- related generalized epilepsy with febrile seizures plus 12.3
6 gabrg2-related generalized epilepsy with febrile seizures plus 12.3
7 scn1b-related generalized epilepsy with febrile seizures plus 12.3
8 gabrd-related generalized epilepsy with febrile seizures plus 12.3
9 epilepsy, generalized, with febrile seizures plus, type 2 12.0
10 febrile seizures, familial, 3b 12.0
11 epilepsy, generalized, with febrile seizures plus, type 3 12.0
12 epilepsy, generalized, with febrile seizures plus, type 1 12.0
13 dravet syndrome 11.6
14 febrile seizures, familial, 1 11.1
15 scn1a-related seizure disorders 11.1
16 febrile seizures 10.8
17 epilepsy 10.8
18 scn5a-related brugada syndrome 10.3 SCN1B SCN9A
19 atrial fibrillation, familial, 13 10.3 SCN1A SCN1B
20 neuronitis 10.3
21 syne1-related autosomal recessive cerebellar ataxia 10.3 SCN1A SCN1B SCN9A
22 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 GABRG2 SCN1A SCN8A
23 gingivitis 10.2 GABRG2 SCN1A SCN1B
24 syphilitic spinal sclerosis 10.2 KCNQ2 SCN1A SCN2A
25 adult brain ependymoma 10.1 SCN1A SCN2A TBC1D24
26 deafness, autosomal recessive 27 10.1 SCN2A SCN3A
27 epidermolysis bullosa simplex, ogna type 10.1 KCNQ2 KCNQ3
28 marek disease 10.1 SCN1A TBC1D24
29 mbd5 haploinsufficiency 10.1 KCNQ2 KCNQ3
30 mental retardation, x-linked 29 and others 10.1 KCNQ2 TBC1D24
31 lymphoproliferative syndrome 10.1 GABRG2 SCN9A TBC1D24
32 epileptic encephalopathy, early infantile, 15 10.1 KCNQ2 SCN1A SCN2A SCN8A
33 floppy infant syndrome 10.1 KCNQ2 SCN1A SCN2A SCN8A
34 suppurative cholangitis 10.0 KCNQ2 KCNQ3 SCN2A
35 microphthalmia, syndromic 2 10.0 GABRA1 SCN2A
36 urethral stricture 10.0 GABRA1 GABRG2 SCN1B
37 deafness, autosomal recessive 65 10.0 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
38 gaba aminotransferase deficiency 10.0 KCNQ2 KCNQ3 SCN2A SCN8A
39 wagro syndrome 9.9 GABRG2 KCNQ2 KCNQ3 TBC1D24
40 spondylosis 9.9 GABRD GABRG2 SCN1A SCN3A TBC1D24
41 gingival disease 9.9 KCNQ2 KCNQ3 SCN2A TBC1D24
42 early onset absence epilepsy 9.9 GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
43 3-methylcrotonyl-coa carboxylase deficiency 9.9 GABRA1 GABRG2 KCNQ2 TBC1D24
44 epileptic encephalopathy, early infantile, 11 9.9 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
45 pulmonary hypertension 9.9 KCNQ2 SCN2A TBC1D24
46 adolescence-adult electroclinical syndrome 9.8 KCNQ2 KCNQ3 SCN1A SCN2A TBC1D24
47 autosomal recessive nonsyndromic deafness 9.8 GABRA1 GABRG2 KCNQ2 SCN1A TBC1D24
48 hydromyelia 9.8 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN2A
49 atrial fibrillation, familial, 3 9.7 KCNQ2 KCNQ3 XK
50 aceruloplasminemia 9.7 GABRA1 GABRD GABRG2 KCNQ3 SCN1A TBC1D24

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 STX1B GABRA1 GABRD GABRG2 KCNQ2 KCNQ3
2 growth/size/body region MP:0005378 9.9 GABRA1 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
3 mortality/aging MP:0010768 9.73 KCNQ3 SCN1A SCN1B SCN2A SCN3A SCN8A
4 nervous system MP:0003631 9.4 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A

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:

id Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus 29

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 51)
id Title Authors Year
1
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. ( 23158734 )
2012
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
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. ( 21156207 )
2011
4
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. ( 21843600 )
2011
5
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. ( 20600615 )
2010
6
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. ( 20367785 )
2010
7
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488289 )
2010
8
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488261 )
2010
9
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. ( 20452746 )
2010
10
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488258 )
2010
11
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488303 )
2010
12
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. ( 20117752 )
2010
13
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. ( 19236456 )
2009
14
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? ( 19203856 )
2009
15
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. ( 19951487 )
2009
16
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. ( 19261880 )
2009
17
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. ( 19409490 )
2009
18
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
19
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. ( 18846618 )
2008
20
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. ( 18566737 )
2008
21
[Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. ( 18458705 )
2008
22
A novel locus for generalized epilepsy with febrile seizures plus in French families. ( 18625863 )
2008
23
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. ( 18846619 )
2008
24
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. ( 19065515 )
2008
25
[Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. ( 19171087 )
2008
26
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. ( 17629415 )
2007
27
[Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. ( 16053169 )
2005
28
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). ( 16359471 )
2005
29
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
30
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). ( 15508917 )
2005
31
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. ( 14702334 )
2004
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
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. ( 12535936 )
2003
35
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. ( 12919402 )
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
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. ( 11748509 )
2002
38
Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). ( 12060016 )
2002
39
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. ( 12486163 )
2002
40
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. ( 12011299 )
2002
41
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. ( 11313220 )
2001
42
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. ( 11567038 )
2001
43
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. ( 11254444 )
2001
44
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. ( 11254445 )
2001
45
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. ( 11591834 )
2001
46
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. ( 11756608 )
2001
47
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. ( 10677328 )
2000
48
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. ( 9894880 )
1999
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
id 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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
2
Show member pathways
12.74 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
3
Show member pathways
12.64 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
4
Show member pathways
12.46 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
5 12.31 KCNQ2 SCN1A SCN1B SCN2A SCN7A SCN8A
6
Show member pathways
11.87 GABRA1 SCN2A SCN3A SCN9A
7
Show member pathways
11.71 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
8
Show member pathways
11.57 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
9 11.27 GABRA1 GABRD GABRG2
10 10.86 GABRA1 GABRD GABRG2
11
Show member pathways
10.77 GABRA1 GABRG2
12 10.75 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 11)
id Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 9.65 GABRA1 GABRD GABRG2
2 intercalated disc GO:0014704 9.63 SCN1A SCN1B SCN2A
3 T-tubule GO:0030315 9.61 SCN1A SCN1B SCN2A
4 GABA-A receptor complex GO:1902711 9.54 GABRA1 GABRD GABRG2
5 sodium channel complex GO:0034706 9.5 SCN1A SCN1B SCN2A
6 axon initial segment GO:0043194 9.46 KCNQ2 KCNQ3 SCN1A SCN8A
7 node of Ranvier GO:0033268 9.43 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
8 voltage-gated sodium channel complex GO:0001518 9.17 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
9 membrane GO:0016020 10.37 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
10 integral component of membrane GO:0016021 10.28 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
11 plasma membrane GO:0005886 10.16 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 9.95 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
2 chemical synaptic transmission GO:0007268 9.89 GABRD GABRG2 KCNQ2 KCNQ3 SCN1B
3 neuronal action potential GO:0019228 9.85 SCN1A SCN2A SCN3A SCN7A SCN8A SCN9A
4 regulation of ion transmembrane transport GO:0034765 9.81 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
5 membrane depolarization during action potential GO:0086010 9.8 SCN1A SCN2A SCN3A SCN7A SCN8A SCN9A
6 chloride transmembrane transport GO:1902476 9.74 GABRA1 GABRD GABRG2
7 chloride transport GO:0006821 9.73 GABRA1 GABRD GABRG2
8 myelination GO:0042552 9.69 SCN2A SCN8A XK
9 ion transmembrane transport GO:0034220 9.65 GABRA1 GABRD GABRG2 KCNQ2 SCN1A SCN2A
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.58 GABRA1 GABRG2
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1A SCN1B
12 cellular response to histamine GO:0071420 9.55 GABRA1 GABRG2
13 neuronal action potential propagation GO:0019227 9.54 SCN1A SCN1B
14 synaptic transmission, GABAergic GO:0051932 9.52 GABRA1 GABRG2
15 regulation of postsynaptic membrane potential GO:0060078 9.23 GABRA1 SCN1A SCN1B SCN2A SCN3A SCN7A
16 transport GO:0006810 10.28 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
17 transmembrane transport GO:0055085 10.08 KCNQ2 KCNQ3 SCN1A SCN2A SCN3A SCN7A
18 ion transport GO:0006811 10.03 GABRA1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
19 sodium ion transport GO:0006814 10 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.81 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
2 ion channel activity GO:0005216 9.8 GABRA1 SCN1A SCN2A SCN3A SCN7A SCN8A
3 chloride channel activity GO:0005254 9.58 GABRA1 GABRD GABRG2
4 extracellular ligand-gated ion channel activity GO:0005230 9.54 GABRA1 GABRD GABRG2
5 GABA-A receptor activity GO:0004890 9.5 GABRA1 GABRD GABRG2
6 sodium channel activity GO:0005272 9.5 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A
7 voltage-gated sodium channel activity GO:0005248 9.17 SCN1A SCN1B SCN2A SCN3A SCN7A SCN8A

Sources for Generalized Epilepsy with Febrile Seizures Plus

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