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GEFS+
MCID: GNR002
MIFTS: 43

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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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 73
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
Orphanet 59 ORPHA36387
UMLS via Orphanet 74 C3502809
ICD10 via Orphanet 34 G40.3
UMLS 73 C3502809
Sources

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 2 and generalized epilepsy with febrile seizures plus, type 1. 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 t cells, myeloid and temporal lobe, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 76 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 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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 2 34.9 LOC102724058 SCN1A
2 generalized epilepsy with febrile seizures plus, type 1 34.8 LOC102724058 SCN1A SCN1B
3 generalized epilepsy with febrile seizures plus, type 7 34.7 SCN1A-AS1 SCN9A
4 genetic epilepsy with febrile seizures plus 33.5 SCN1A SCN9A
5 epilepsy, idiopathic generalized 10 33.0 GABRD GABRG2 KCNQ3 ME2 SCN1A SCN2A
6 epileptic encephalopathy, early infantile, 6 32.2 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
7 febrile seizures 31.2 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
8 epilepsy 30.7 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
9 myoclonic epilepsy of infancy 30.4 GABRG2 SCN1A SCN8A
10 early myoclonic encephalopathy 30.0 GABRG2 SCN1A SCN1B TBC1D24
11 seizure disorder 29.9 KCNQ2 SCN1A SCN2A TBC1D24
12 epilepsy, idiopathic generalized 29.2 GABRD GABRG2 KCNQ2 KCNQ3 ME2 SCN1A
13 generalized epilepsy with febrile seizures plus, type 3 12.9
14 generalized epilepsy with febrile seizures plus, type 9 12.9
15 generalized epilepsy with febrile seizures plus, type 8 12.8
16 generalized epilepsy with febrile seizures plus, type 4 12.6
17 generalized epilepsy with febrile seizures plus, type 6 12.6
18 scn1a-related seizure disorders 11.3
19 neuroblastoma 10.7
20 indifference to pain, congenital, autosomal recessive 10.2 SCN1A-AS1 SCN9A
21 neural tube defects 10.2
22 breast cancer 10.2
23 infantile epileptic encephalopathy 10.2 SCN1A SCN2A SCN8A
24 paroxysmal extreme pain disorder 10.2 SCN1A-AS1 SCN9A
25 coffin-siris syndrome 4 10.2 SCN2A SCN8A SCN9A
26 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A TBC1D24
27 lennox-gastaut syndrome 10.1 GABRG2 SCN1A TBC1D24
28 malignant migrating partial seizures of infancy 10.1 SCN1A SCN2A TBC1D24
29 autism 10.1
30 benign childhood occipital epilepsy, panayiotopoulos type 10.1
31 hyperekplexia 10.1 GABRG2 SCN9A TBC1D24
32 adolescence-adult electroclinical syndrome 10.1 GABRD GABRG2 SCN1A TBC1D24
33 visual epilepsy 10.1 KCNQ2 SCN1A SCN2A
34 seizures, benign familial neonatal, 2 10.1 KCNQ2 KCNQ3
35 chronic interstitial cystitis 10.1
36 hepatosplenic t-cell lymphoma 10.1
37 melanoma 10.1
38 benign neonatal seizures 10.0 KCNQ2 KCNQ3 SCN2A
39 childhood absence epilepsy 10.0 GABRG2 ME2 SCN1B
40 childhood electroclinical syndrome 10.0 GABRG2 KCNQ3 TBC1D24
41 epileptic encephalopathy, early infantile, 1 10.0 KCNQ2 TBC1D24
42 epilepsy, nocturnal frontal lobe, 1 10.0 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
43 infancy electroclinical syndrome 9.9 GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
44 benign familial neonatal epilepsy 9.9 KCNQ2 KCNQ3 SCN2A TBC1D24
45 kabuki syndrome 1 9.9
46 aging 9.9
47 alacrima, achalasia, and mental retardation syndrome 9.9
48 bipolar disorder 9.9
49 leukemia 9.9
50 temporal lobe epilepsy 9.9

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



Diseases related to Generalized Epilepsy with Febrile Seizures Plus
Sources

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus

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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 9.7 ADGRV1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
2 nervous system MP:0003631 9.36 ADGRV1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
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
Sources

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
T Cells, Myeloid, Temporal Lobe, Endothelial, Brain, Kidney, Smooth Muscle
Sources

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 120)
# Title Authors Year
1
[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. ( 29429462 )
2018
2
Molecular control of Rab activity by GEFs, GAPs and GDI. ( 28055292 )
2018
3
Inhibition of smooth muscle contraction and ARF6 activity by the inhibitor for cytohesin GEFs, secinH3, in the human prostate. ( 28855187 )
2018
4
Putting Canoe in place: a tale of two GEFs. ( 29374063 )
2018
5
Rac-GTPases and Rac-GEFs in neutrophil adhesion, migration and recruitment. ( 29682742 )
2018
6
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel. ( 29992740 )
2018
7
How Rap and its GEFs control liver physiology and cancer development. C3G alterations in human hepatocarcinoma. ( 30302196 )
2018
8
A single class of ARF GTPase activated by several pathway-specific ARF-GEFs regulates essential membrane traffic in Arabidopsis. ( 30439956 )
2018
9
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. ( 28704742 )
2017
10
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
11
GEFs: Dual regulation of Rac1 signaling. ( 27314616 )
2017
12
Characterization of the activation of small GTPases by their GEFs on membranes using artificial membrane tethering. ( 28196833 )
2017
13
The GAPs, GEFs, GDIs and…now, GEMs: New kids on the heterotrimeric G protein signaling block. ( 28287365 )
2017
14
Rho-specific Guanine nucleotide exchange factors (Rho-GEFs) inhibition affects macrophage phenotype and disrupts Golgi complex. ( 29061365 )
2017
15
A pull-down procedure for the identification of unknown GEFs for small GTPases. ( 26918858 )
2016
16
Fgf13 Identified as a Novel Cause of GEFS. ( 27073347 )
2016
17
Multiple Types of Guanine Nucleotide Exchange Factors (GEFs) for Rab Small GTPases. ( 27246931 )
2016
18
GEFs and Rac GTPases control directional specificity of neurite extension along the anterior-posterior axis. ( 27274054 )
2016
19
Allosteric regulation of Arf GTPases and their GEFs at the membrane interface. ( 27449855 )
2016
20
The BRAG/IQSec family of Arf GEFs. ( 27739918 )
2016
21
P-Rex and Vav Rac-GEFs in platelets control leukocyte recruitment to sites of inflammation. ( 25538043 )
2015
22
Rho GEFs and GAPs: emerging integrators of extracellular matrix signaling. ( 25862162 )
2015
23
Regulation and function of P-Rex family Rac-GEFs. ( 25961466 )
2015
24
The cytohesin guanosine exchange factors (GEFs) are required to promote HGF-mediated renal recovery after acute kidney injury (AKI) in mice. ( 26116550 )
2015
25
Phosphorylation-mediated regulation of GEFs for RhoA. ( 24589508 )
2014
26
Rho GAPs and GEFs: controling switches in endothelial cell adhesion. ( 24622613 )
2014
27
Liposome reconstitution and modulation of recombinant prenylated human Rac1 by GEFs, GDI1 and Pak1. ( 25014207 )
2014
28
Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration. ( 25016980 )
2014
29
Is the model of signal amplification by GPCRs/GEFs activating multiple GTPases relevant to a broad spectrum of heterotrimeric and RAS superfamily GTPases? ( 25610716 )
2014
30
Regulation of small GTPases by GEFs, GAPs, and GDIs. ( 23303910 )
2013
31
Neuronal Rho GEFs in synaptic physiology and behavior. ( 23401188 )
2013
32
Rab35: GEFs, GAPs and effectors. ( 23905989 )
2013
33
Guanine nucleotide exchange factors (GEFs) have a critical but not exclusive role in organelle localization of Rab GTPases. ( 23979137 )
2013
34
Expanding the regulatory repertoire of GEFs. ( 24058296 )
2013
35
Rho GEFs in endothelial junctions: Effector selectivity and signaling integration determine junctional response. ( 24790803 )
2013
36
Quantitative Analysis of Guanine Nucleotide Exchange Factors (GEFs) as Enzymes. ( 25332840 )
2013
37
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. ( 23158734 )
2012
38
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+). ( 22944210 )
2012
39
Rac signaling in breast cancer: a tale of GEFs and GAPs. ( 21893191 )
2012
40
Mimicking GEFs: a common theme for bacterial pathogens. ( 21951829 )
2012
41
GEFs on the RhoAd to a colossal nucleus. ( 22421037 )
2012
42
Affinity precipitation of active Rho-GEFs using a GST-tagged mutant Rho protein (GST-RhoA(G17A)) from epithelial cell lysates. ( 22491204 )
2012
43
Nucleotide exchange factors: Kinetic analyses and the rationale for studying kinetics of GEFs. ( 23181196 )
2012
44
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. ( 21156207 )
2011
45
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. ( 21843600 )
2011
46
The Rho GEFs LARG and GEF-H1 regulate the mechanical response to force on integrins. ( 21572419 )
2011
47
Conserved role of Ras-GEFs in promoting aging: from yeast to mice. ( 21732566 )
2011
48
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases. ( 21858011 )
2011
49
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. ( 20452746 )
2010
50
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. ( 20367785 )
2010
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 452)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh37 Chromosome 2, 167138296: 167138296
2 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh38 Chromosome 2, 166281786: 166281786
3 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
4 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
5 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
6 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
7 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
8 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
9 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
10 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
11 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
12 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
13 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh37 Chromosome 2, 166892788: 166892788
14 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh38 Chromosome 2, 166036278: 166036278
15 GABRG2 NM_000816.3(GABRG2): c.588C> T (p.Asn196=) single nucleotide variant Benign rs211037 GRCh37 Chromosome 5, 161528280: 161528280
16 GABRG2 NM_000816.3(GABRG2): c.588C> T (p.Asn196=) single nucleotide variant Benign rs211037 GRCh38 Chromosome 5, 162101274: 162101274
17 SCN1B NM_001037.4(SCN1B): c.40+15G> T single nucleotide variant Benign rs72556351 GRCh37 Chromosome 19, 35521779: 35521779
18 SCN1B NM_001037.4(SCN1B): c.40+15G> T single nucleotide variant Benign rs72556351 GRCh38 Chromosome 19, 35030875: 35030875
19 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh37 Chromosome 2, 167055393: 167055393
20 SCN9A NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly) single nucleotide variant Benign rs3750904 GRCh38 Chromosome 2, 166198883: 166198883
21 GABRG2 NM_000816.3(GABRG2): c.315C> T (p.Asn105=) single nucleotide variant Benign rs11135176 GRCh37 Chromosome 5, 161522556: 161522556
22 GABRG2 NM_000816.3(GABRG2): c.315C> T (p.Asn105=) single nucleotide variant Benign rs11135176 GRCh38 Chromosome 5, 162095550: 162095550
23 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh37 Chromosome 5, 161524670: 161524670
24 GABRG2 NM_000816.3(GABRG2): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs61735412 GRCh38 Chromosome 5, 162097664: 162097664
25 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh37 Chromosome 5, 161530980: 161530980
26 GABRG2 NM_000816.3(GABRG2): c.717A> G (p.Gln239=) single nucleotide variant Benign/Likely benign rs78261481 GRCh38 Chromosome 5, 162103974: 162103974
27 SCN1B NM_001037.4(SCN1B): c.501T> C (p.Ile167=) single nucleotide variant Benign/Likely benign rs16969930 GRCh37 Chromosome 19, 35530073: 35530073
28 SCN1B NM_001037.4(SCN1B): c.501T> C (p.Ile167=) single nucleotide variant Benign/Likely benign rs16969930 GRCh38 Chromosome 19, 35039169: 35039169
29 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh37 Chromosome 2, 167145142: 167145142
30 SCN9A NM_002977.3(SCN9A): c.1119T> C (p.Ala373=) single nucleotide variant Benign rs13414203 GRCh38 Chromosome 2, 166288632: 166288632
31 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh37 Chromosome 2, 167145106: 167145106
32 SCN9A NM_002977.3(SCN9A): c.1155G> T (p.Val385=) single nucleotide variant Benign rs58465962 GRCh38 Chromosome 2, 166288596: 166288596
33 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh37 Chromosome 2, 167144995: 167144995
34 SCN9A NM_002977.3(SCN9A): c.1266A> G (p.Glu422=) single nucleotide variant Benign rs13402180 GRCh38 Chromosome 2, 166288485: 166288485
35 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh37 Chromosome 2, 167144974: 167144974
36 SCN9A NM_002977.3(SCN9A): c.1287T> A (p.Arg429=) single nucleotide variant Benign rs6747673 GRCh38 Chromosome 2, 166288464: 166288464
37 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh37 Chromosome 2, 167142979: 167142979
38 SCN9A NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn) single nucleotide variant Benign/Likely benign rs58022607 GRCh38 Chromosome 2, 166286469: 166286469
39 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh37 Chromosome 2, 167168093: 167168093
40 SCN9A NM_002977.3(SCN9A): c.174G> A (p.Gln58=) single nucleotide variant Benign rs6432901 GRCh38 Chromosome 2, 166311583: 166311583
41 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh37 Chromosome 2, 167129258: 167129258
42 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh38 Chromosome 2, 166272748: 166272748
43 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh37 Chromosome 2, 167108385: 167108385
44 SCN9A NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln) single nucleotide variant Benign/Likely benign rs74401238 GRCh38 Chromosome 2, 166251875: 166251875
45 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh37 Chromosome 2, 167094730: 167094730
46 SCN9A NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=) single nucleotide variant Benign rs77144869 GRCh38 Chromosome 2, 166238220: 166238220
47 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh37 Chromosome 2, 167094638: 167094638
48 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 GRCh38 Chromosome 2, 166238128: 166238128
49 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh37 Chromosome 2, 167089976: 167089976
50 SCN9A NM_002977.3(SCN9A): c.3769-4A> G single nucleotide variant Benign rs75230218 GRCh38 Chromosome 2, 166233466: 166233466
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 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
2
G-Beta Gamma Signaling 64
Show member pathways
 12.72 SCN1A SCN1B SCN2A SCN8A SCN9A
3
Cardiac conduction 66
Show member pathways
 12.53 SCN1A SCN1B SCN2A SCN8A SCN9A
4
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.31 SCN1A SCN1B SCN2A SCN8A SCN9A
5
Neuroscience 4
12.27 KCNQ2 SCN1A SCN1B SCN2A SCN8A SCN9A
6
L1CAM interactions 66
Show member pathways
 11.6 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
7
Phase 0 - rapid depolarisation 66
Show member pathways
 11.43 SCN1A SCN1B SCN2A SCN8A SCN9A
8
Synaptic Neurotransmission Pathways: GABAergic Inhibition 65
10.66 GABRD GABRG2
9
Interaction between L1 and Ankyrins 66
10.64 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
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:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.8 GABRG2 SCN1A SCN2A SCN8A SCN9A STX1B
2 intercalated disc GO:0014704 9.58 SCN1A SCN1B SCN2A
3 T-tubule GO:0030315 9.54 SCN1A SCN1B SCN2A
4 GABA-A receptor complex GO:1902711 9.46 GABRD GABRG2
5 axon initial segment GO:0043194 9.46 KCNQ2 KCNQ3 SCN1A SCN8A
6 sodium channel complex GO:0034706 9.43 SCN1A SCN1B SCN2A
7 voltage-gated sodium channel complex GO:0001518 9.35 SCN1A SCN1B SCN2A SCN8A SCN9A
8 node of Ranvier GO:0033268 9.1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
9 integral component of membrane GO:0016021 10.26 ADGRV1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A
10 plasma membrane GO:0005886 10.25 ADGRV1 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A SCN9A
2 chemical synaptic transmission GO:0007268 9.83 GABRD GABRG2 KCNQ2 KCNQ3 SCN1B
3 sodium ion transport GO:0006814 9.8 SCN1A SCN1B SCN2A SCN8A SCN9A
4 ion transmembrane transport GO:0034220 9.8 GABRD GABRG2 KCNQ2 SCN1A SCN2A SCN8A
5 sodium ion transmembrane transport GO:0035725 9.72 SCN1A SCN1B SCN2A SCN8A SCN9A
6 regulation of membrane potential GO:0042391 9.7 GABRD GABRG2 SCN1A
7 neuronal action potential GO:0019228 9.67 SCN1A SCN2A SCN8A SCN9A
8 nervous system process GO:0050877 9.65 ADGRV1 GABRD GABRG2
9 ion transport GO:0006811 9.61 GABRD GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.51 SCN1A SCN1B
11 neuronal action potential propagation GO:0019227 9.49 SCN1A SCN1B
12 membrane depolarization during action potential GO:0086010 9.46 SCN1A SCN2A SCN8A SCN9A
13 regulation of ion transmembrane transport GO:0034765 9.17 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A

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 9.73 GABRD GABRG2 SCN1A SCN2A SCN8A SCN9A
2 sodium channel activity GO:0005272 9.55 SCN1A SCN1B SCN2A SCN8A SCN9A
3 voltage-gated ion channel activity GO:0005244 9.5 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
4 delayed rectifier potassium channel activity GO:0005251 9.4 KCNQ2 KCNQ3
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.37 GABRD GABRG2
6 GABA-A receptor activity GO:0004890 9.32 GABRD GABRG2
7 voltage-gated sodium channel activity GO:0005248 9.02 SCN1A SCN1B SCN2A SCN8A SCN9A
Sources

Sources for Generalized Epilepsy with Febrile Seizures Plus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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