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GEFS+
MCID: GNR002
MIFTS: 53

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

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MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus:

Name: Generalized Epilepsy with Febrile Seizures Plus 12 29 6 15 72
Gefs+ 12 59
Epilepsy, Generalized, with Febrile Seizures Plus 40
Generalized Epilepsy with Febrile Seizures-Plus 59

Characteristics:

Orphanet epidemiological data:

59
generalized epilepsy with febrile seizures-plus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060170
ICD10 33 G40.3
ICD10 via Orphanet 34 G40.3
UMLS via Orphanet 73 C3502809
Orphanet 59 ORPHA36387
UMLS 72 C3502809
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Summaries for Generalized Epilepsy with Febrile Seizures Plus

About this section
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 7 and generalized epilepsy with febrile seizures plus, type 2. 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. Affiliated tissues include endothelial, brain and breast, and related phenotypes are ataxia and muscular hypotonia

Wikipedia : 75 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...

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Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

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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 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 Generalized Epilepsy with Febrile Seizures Plus, Type 10

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 7 35.8 SCN9A SCN1A-AS1
2 generalized epilepsy with febrile seizures plus, type 2 35.7 SCN1A LOC102724058
3 generalized epilepsy with febrile seizures plus, type 1 35.6 SCN1B SCN1A LOC102724058
4 genetic epilepsy with febrile seizures plus 34.4 SCN9A SCN1A
5 epilepsy, idiopathic generalized 10 33.3 SCN2A SCN1A ME2 KCNQ3 GABRG2 GABRD
6 febrile seizures 32.1 STX1B SCN9A SCN1B SCN1A KCNQ2 GABRG2
7 seizure disorder 32.0 SCN2A SCN1A KCNQ2
8 epileptic encephalopathy, early infantile, 6 31.8 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3
9 visual epilepsy 31.8 SCN2A SCN1A KCNQ2
10 early myoclonic encephalopathy 31.6 SCN1B SCN1A GABRG2
11 myoclonic epilepsy of infancy 31.5 SCN8A SCN1A GABRG2
12 epilepsy with generalized tonic-clonic seizures 30.7 SCN2A SCN1A
13 focal epilepsy 30.5 SCN8A SCN2A SCN1A LOC102724058 GABRG2 GABRD
14 childhood absence epilepsy 30.4 SCN1B ME2 GABRG2
15 epilepsy 29.7 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A
16 epilepsy, idiopathic generalized 29.7 SCN2A SCN1B SCN1A ME2 KCNQ3 KCNQ2
17 generalized epilepsy with febrile seizures plus, type 9 13.2
18 generalized epilepsy with febrile seizures plus, type 6 13.1
19 generalized epilepsy with febrile seizures plus, type 8 13.0
20 generalized epilepsy with febrile seizures plus, type 4 13.0
21 generalized epilepsy with febrile seizures plus, type 10 13.0
22 febrile seizures, familial, 8 12.6
23 scn1a-related seizure disorders 11.5
24 indifference to pain, congenital, autosomal recessive 10.6 SCN9A SCN1A-AS1
25 adolescence-adult electroclinical syndrome 10.5 SCN1A GABRG2 GABRD
26 paroxysmal extreme pain disorder 10.5 SCN9A SCN1A-AS1
27 coffin-siris syndrome 4 10.4 SCN9A SCN8A SCN2A
28 epilepsy with myoclonic-atonic seizures 10.4
29 neural tube defects 10.4
30 scn1a seizure disorders 10.3
31 malignant migrating partial seizures of infancy 10.3 SCN2A SCN1A
32 chronic interstitial cystitis 10.3
33 hepatosplenic t-cell lymphoma 10.3
34 seizures, benign familial neonatal, 2 10.2 KCNQ3 KCNQ2
35 alacrima, achalasia, and mental retardation syndrome 10.2
36 breast cancer 10.1
37 colorectal cancer 10.1
38 polykaryocytosis inducer 10.1
39 neuroblastoma 1 10.1
40 infancy electroclinical syndrome 10.1 SCN2A SCN1B SCN1A KCNQ2 GABRG2
41 febrile seizures, familial, 1 10.1
42 autism 10.1
43 epilepsy, myoclonic juvenile 10.1
44 febrile seizures, familial, 2 10.1
45 myoclonic-atonic epilepsy 10.1
46 autism spectrum disorder 10.1
47 status epilepticus 10.1
48 temporal lobe epilepsy 10.1
49 encephalopathy 10.1
50 benign childhood occipital epilepsy, panayiotopoulos type 10.1

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



Diseases related to Generalized Epilepsy with Febrile Seizures Plus
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Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus

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Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus:

59 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 Occasional (29-5%)
2 muscular hypotonia 59 Occasional (29-5%)
3 tremor 59 Very rare (<4-1%)
4 developmental regression 59 Occasional (29-5%)
5 pes planus 59 Very rare (<4-1%)
6 cognitive impairment 59 Occasional (29-5%)
7 generalized myoclonic seizures 59 Occasional (29-5%)
8 anxiety 59 Very rare (<4-1%)
9 poor fine motor coordination 59 Occasional (29-5%)
10 generalized tonic-clonic seizures 59 Occasional (29-5%)
11 focal impaired awareness seizure 59 Very rare (<4-1%)
12 generalized-onset seizure 59 Very frequent (99-80%)
13 absence seizure 59 Frequent (79-30%)
14 febrile seizures 59 Frequent (79-30%)
15 status epilepticus 59 Very rare (<4-1%)
16 focal-onset seizure 59 Very rare (<4-1%)
17 atonic seizures 59 Occasional (29-5%)
18 bradykinesia 59 Very rare (<4-1%)
19 autistic behavior 59 Very rare (<4-1%)
20 tibial torsion 59 Very rare (<4-1%)
21 cortical dysplasia 59 Occasional (29-5%)
22 incoordination 59 Occasional (29-5%)
23 generalized cerebral atrophy/hypoplasia 59 Occasional (29-5%)
24 eeg with spike-wave complexes 59 Occasional (29-5%)
25 obsessive-compulsive trait 59 Very rare (<4-1%)
26 obtundation status 59 Occasional (29-5%)
27 limited knee extension 59 Very rare (<4-1%)
28 talipes valgus 59 Very rare (<4-1%)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ADGRV1 GABRD GABRG2 HCN1 KCNQ2 KCNQ3
2 nervous system MP:0003631 9.4 ADGRV1 GABRD GABRG2 HCN1 KCNQ2 KCNQ3
Sources

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus

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

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Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus

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Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus 29
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Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus

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

41
Endothelial, Brain, Breast, Neutrophil, T Cells, Smooth Muscle, Lung
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Publications for Generalized Epilepsy with Febrile Seizures Plus

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Articles related to Generalized Epilepsy with Febrile Seizures Plus:

(show top 50) (show all 1564)
# Title Authors PMID Year
1
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 38 71
18479394 2008
2
SCN1A Seizure Disorders 38 71
20301494 2007
3
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface. 38 71
17148443 2007
4
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 38 71
17020904 2007
5
A novel GABRG2 mutation associated with febrile seizures. 38 71
16924025 2006
6
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 38 71
14504340 2003
7
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 38 71
12566275 2003
8
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 38 71
12011299 2002
9
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 38 71
11866477 2002
10
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 38 71
11748509 2002
11
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. 38 71
11756608 2001
12
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 38 71
11591834 2001
13
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. 38 71
11524484 2001
14
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. 38 71
11326274 2001
15
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 38 71
11254445 2001
16
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 38 71
11254444 2001
17
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 38 71
10742094 2000
18
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. 38 71
10521305 1999
19
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 38 71
10486327 1999
20
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 38 71
9894880 1999
21
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 38 71
9697698 1998
22
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 71
25362483 2014
23
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. 71
23935098 2013
24
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
25
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 71
20437590 2010
26
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 71
19763161 2009
27
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 71
16510738 2006
28
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 71
16505326 2006
29
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 71
16326807 2005
30
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 71
16205844 2005
31
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 71
15710580 2005
32
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. 71
15342642 2004
33
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 71
12117362 2002
34
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 71
11326275 2001
35
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures. 71
10852559 2000
36
Locus for febrile seizures. 71
10852560 2000
37
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. 71
10514109 1999
38
ARHGEF4-mediates the actin cytoskeleton reorganization of hepatic stellate cells in 3-dimensional collagen matrices. 38
30871422 2019
39
Milk-whey diet substantially suppresses seizure-like phenotypes of paraShu, a Drosophila voltage-gated sodium channel mutant. 38
31096839 2019
40
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 38
30680721 2019
41
Ypt/Rab GTPases and their TRAPP GEFs at the Golgi. 38
31400292 2019
42
Spatiotemporal dynamics of GEF-H1 activation controlled by microtubule- and Src-mediated pathways. 38
31420453 2019
43
Mechanotransduction: from the cell surface to the nucleus via RhoA. 38
31431179 2019
44
Vrl1 relies on its VPS9-domain to play a role in autophagy in Saccharomyces cerevisiae. 38
31038239 2019
45
Mutant-Specific Targeting of Ras G12C Activity by Covalently Reacting Small Molecules. 38
31378709 2019
46
SPIN90, an adaptor protein, alters the proximity between Rab5 and Gapex5 and facilitates Rab5 activation during EGF endocytosis. 38
31358736 2019
47
In vivo identification of GTPase interactors by mitochondrial relocalization and proximity biotinylation. 38
31294692 2019
48
Predictions of genotoxic potential, mode of action, molecular targets, and potency via a tiered multiflow® assay data analysis strategy. 38
30702769 2019
49
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. 38
31401500 2019
50
Ancient complement and lineage-specific evolution of the Sec7 ARF GEF proteins in eukaryotes. 38
31141460 2019
Sources

Variations for Generalized Epilepsy with Febrile Seizures Plus

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

6 (show top 50) (show all 226)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 19:35524558-35524558 19:35033654-35033654
2 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 2:167137018-167137018 2:166280508-166280508
3 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 2:167129256-167129256 2:166272746-166272746
4 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 2:167138296-167138296 2:166281786-166281786
5 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 2:167129258-167129258 2:166272748-166272748
6 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 2:167094638-167094638 2:166238128-166238128
7 GABRG2 NM_198903.2(GABRG2): c.243T> A (p.Leu81=) single nucleotide variant Conflicting interpretations of pathogenicity rs143295869 5:161520969-161520969 5:162093963-162093963
8 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 2:167136962-167136962 2:166280452-166280452
9 SCN1B NM_001037.5(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 19:35524607-35524607 19:35033703-35033703
10 SCN1B NM_001037.5(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 19:35521752-35521752 19:35030848-35030848
11 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 2:167142893-167142893 2:166286383-166286383
12 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 2:167094721-167094721 2:166238211-166238211
13 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 2:167089942-167089942 2:166233432-166233432
14 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 2:167083161-167083161 2:166226651-166226651
15 GABRG2 NM_198903.2(GABRG2): c.107+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369466385 5:161495124-161495124 5:162068118-162068118
16 GABRG2 NM_198903.2(GABRG2): c.1042+6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375294947 5:161569328-161569328 5:162142322-162142322
17 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 2:167055438-167055438 2:166198928-166198928
18 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 2:167134706-167134706 2:166278196-166278196
19 SCN9A NM_002977.3(SCN9A): c.1464C> T (p.Leu488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200682458 2:167142984-167142984 2:166286474-166286474
20 SCN9A NM_002977.3(SCN9A): c.4462C> A (p.Arg1488=) single nucleotide variant Conflicting interpretations of pathogenicity rs187558439 2:167060878-167060878 2:166204368-166204368
21 SCN9A NM_002977.3(SCN9A): c.1947G> A (p.Thr649=) single nucleotide variant Conflicting interpretations of pathogenicity rs200014315 2:167138313-167138313 2:166281803-166281803
22 SCN9A NM_002977.3(SCN9A): c.213G> A (p.Val71=) single nucleotide variant Conflicting interpretations of pathogenicity rs200240989 2:167168054-167168054 2:166311544-166311544
23 SCN9A NM_002977.3(SCN9A): c.1619G> A (p.Arg540His) single nucleotide variant Conflicting interpretations of pathogenicity rs199748300 2:167141318-167141318 2:166284808-166284808
24 SCN9A NM_002977.3(SCN9A): c.1208T> C (p.Met403Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199986805 2:167145053-167145053 2:166288543-166288543
25 SCN9A NM_002977.3(SCN9A): c.4470+8_4470+9insT insertion Conflicting interpretations of pathogenicity rs767624579 2:167060861-167060862 2:166204351-166204352
26 SCN9A NM_002977.3(SCN9A): c.2987G> A (p.Arg996His) single nucleotide variant Conflicting interpretations of pathogenicity rs188145203 2:167129240-167129240 2:166272730-166272730
27 SCN9A NM_002977.3(SCN9A): c.1482G> T (p.Lys494Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs777699798 2:167142966-167142966 2:166286456-166286456
28 SCN9A NM_002977.3(SCN9A): c.1347T> C (p.Ser449=) single nucleotide variant Conflicting interpretations of pathogenicity rs201990547 2:167143101-167143101 2:166286591-166286591
29 GABRG2 NM_198903.2(GABRG2): c.1292G> A (p.Arg431His) single nucleotide variant Conflicting interpretations of pathogenicity rs528036202 5:161580118-161580118 5:162153112-162153112
30 GABRG2 NM_198903.2(GABRG2): c.-4del deletion Conflicting interpretations of pathogenicity rs771282908 5:161495002-161495002 5:162067996-162067996
31 GABRG2 NM_198903.2(GABRG2): c.-4dup duplication Conflicting interpretations of pathogenicity rs771282908 5:161495002-161495002 5:162067996-162067996
32 GABRG2 NM_198903.2(GABRG2): c.1509G> A (p.Leu503=) single nucleotide variant Conflicting interpretations of pathogenicity rs765904792 5:161580335-161580335 5:162153329-162153329
33 GABRG2 NM_198903.2(GABRG2): c.135C> T (p.Asp45=) single nucleotide variant Conflicting interpretations of pathogenicity rs375308385 5:161520861-161520861 5:162093855-162093855
34 GABRG2 NM_198903.2(GABRG2): c.*32T> C single nucleotide variant Uncertain significance rs749257839 5:161580406-161580406 5:162153400-162153400
35 GABRG2 NM_198903.2(GABRG2): c.*1392A> T single nucleotide variant Uncertain significance rs886060386 5:161581766-161581766 5:162154760-162154760
36 GABRG2 NM_198903.2(GABRG2): c.*1468A> G single nucleotide variant Uncertain significance rs372041761 5:161581842-161581842 5:162154836-162154836
37 GABRG2 NM_198903.2(GABRG2): c.-334C> T single nucleotide variant Uncertain significance rs886060374 5:161494672-161494672 5:162067666-162067666
38 GABRG2 NM_198903.2(GABRG2): c.-241A> C single nucleotide variant Uncertain significance rs886060377 5:161494765-161494765 5:162067759-162067759
39 GABRG2 NM_198903.2(GABRG2): c.-104T> G single nucleotide variant Uncertain significance rs886060380 5:161494902-161494902 5:162067896-162067896
40 SCN1B NM_001037.5(SCN1B): c.-132C> G single nucleotide variant Uncertain significance rs886054339 19:35521593-35521593 19:35030689-35030689
41 GABRG2 NM_198903.2(GABRG2): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs587780341 5:161580280-161580280 5:162153274-162153274
42 SCN1B NM_001037.5(SCN1B): c.150C> T (p.Asn50=) single nucleotide variant Uncertain significance rs147073518 19:35523541-35523541 19:35032637-35032637
43 GABRG2 NM_198903.2(GABRG2): c.*194G> A single nucleotide variant Uncertain significance rs758832535 5:161580568-161580568 5:162153562-162153562
44 GABRG2 NM_198903.2(GABRG2): c.*250A> C single nucleotide variant Uncertain significance rs886060384 5:161580624-161580624 5:162153618-162153618
45 GABRG2 NM_198903.2(GABRG2): c.*1427C> T single nucleotide variant Uncertain significance rs375013278 5:161581801-161581801 5:162154795-162154795
46 GABRG2 NM_198903.2(GABRG2): c.*1889C> A single nucleotide variant Uncertain significance rs886060388 5:161582263-161582263 5:162155257-162155257
47 GABRG2 NM_198903.2(GABRG2): c.*1981G> C single nucleotide variant Uncertain significance rs886060389 5:161582355-161582355 5:162155349-162155349
48 GABRG2 NM_198903.2(GABRG2): c.-114T> C single nucleotide variant Uncertain significance rs886060379 5:161494892-161494892 5:162067886-162067886
49 GABRG2 NM_198903.2(GABRG2): c.889+10A> G single nucleotide variant Uncertain significance rs765703079 5:161531042-161531042 5:162104036-162104036
50 GABRG2 NM_198903.2(GABRG2): c.-268C> A single nucleotide variant Uncertain significance rs886060375 5:161494738-161494738 5:162067732-162067732
Sources

Expression for Generalized Epilepsy with Febrile Seizures Plus

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

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.18 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A
2
G-Beta Gamma Signaling 64
Show member pathways
 12.74 SCN9A SCN8A SCN2A SCN1B SCN1A
3
Cardiac conduction 66
Show member pathways
 12.53 SCN9A SCN8A SCN2A SCN1B SCN1A
4
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.31 SCN9A SCN8A SCN2A SCN1B SCN1A
5
Neuroscience 4
12.27 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
6
Potassium Channels 66
Show member pathways
 11.8 KCNQ3 KCNQ2 HCN1
7
L1CAM interactions 66
Show member pathways
 11.6 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3
8
Phase 0 - rapid depolarisation 66
Show member pathways
 11.43 SCN9A SCN8A SCN2A SCN1B SCN1A
9
Synaptic Neurotransmission Pathways: GABAergic Inhibition 65
10.66 GABRG2 GABRD
10
Interaction between L1 and Ankyrins 66
10.64 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3
Sources

GO Terms for Generalized Epilepsy with Febrile Seizures Plus

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.8 STX1B SCN9A SCN8A SCN2A SCN1A HCN1
2 intercalated disc GO:0014704 9.58 SCN2A SCN1B SCN1A
3 T-tubule GO:0030315 9.54 SCN2A SCN1B SCN1A
4 sodium channel complex GO:0034706 9.5 SCN2A SCN1B SCN1A
5 GABA-A receptor complex GO:1902711 9.49 GABRG2 GABRD
6 axon initial segment GO:0043194 9.46 SCN8A SCN1A KCNQ3 KCNQ2
7 voltage-gated sodium channel complex GO:0001518 9.35 SCN9A SCN8A SCN2A SCN1B SCN1A
8 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
9 integral component of membrane GO:0016021 10.27 STX1B SGCZ SCN9A SCN8A SCN2A SCN1B
10 plasma membrane GO:0005886 10.25 STX1B SGCZ SCN9A SCN8A SCN2A SCN1B
11 integral component of plasma membrane GO:0005887 10.02 SCN9A SCN2A KCNQ3 KCNQ2 HCN1 GABRG2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.98 SCN9A SCN8A SCN2A SCN1A KCNQ3 KCNQ2
2 ion transmembrane transport GO:0034220 9.85 SCN9A SCN8A SCN2A SCN1A GABRG2 GABRD
3 ion transport GO:0006811 9.85 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3
4 regulation of membrane potential GO:0042391 9.78 SCN1A HCN1 GABRG2 GABRD
5 chemical synaptic transmission GO:0007268 9.76 KCNQ3 KCNQ2 GABRG2 GABRD
6 sodium ion transport GO:0006814 9.73 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
7 potassium ion transport GO:0006813 9.72 KCNQ3 KCNQ2 HCN1
8 potassium ion transmembrane transport GO:0071805 9.71 KCNQ3 KCNQ2 HCN1
9 neuronal action potential GO:0019228 9.71 SCN9A SCN8A SCN2A SCN1A
10 nervous system process GO:0050877 9.67 GABRG2 GABRD ADGRV1
11 membrane depolarization during action potential GO:0086010 9.62 SCN9A SCN8A SCN2A SCN1A
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.52 SCN1B SCN1A
13 neuronal action potential propagation GO:0019227 9.51 SCN1B SCN1A
14 sodium ion transmembrane transport GO:0035725 9.43 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
15 regulation of ion transmembrane transport GO:0034765 9.23 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 SCN9A SCN8A SCN2A SCN1A HCN1 GABRG2
2 sodium channel activity GO:0005272 9.63 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
3 voltage-gated ion channel activity GO:0005244 9.56 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ3
4 potassium channel activity GO:0005267 9.54 KCNQ3 KCNQ2 HCN1
5 voltage-gated potassium channel activity GO:0005249 9.5 KCNQ3 KCNQ2 HCN1
6 GABA-A receptor activity GO:0004890 9.4 GABRG2 GABRD
7 voltage-gated sodium channel activity GO:0005248 9.1 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
Sources

Sources for Generalized Epilepsy with Febrile Seizures Plus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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