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MCID: GNR002
MIFTS: 38

Generalized Epilepsy with Febrile Seizures Plus

Categories: Neuronal diseases, Rare diseases, Genetic diseases
Genes Variations 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
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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. 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 all 47)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 7 35.5 LOC101929680 SCN9A
2 generalized epilepsy with febrile seizures plus, type 2 35.4 LOC102724058 SCN1A
3 generalized epilepsy with febrile seizures plus, type 1 35.4 LOC102724058 SCN1A SCN1B
4 genetic epilepsy with febrile seizures plus 34.3 SCN1A SCN9A
5 epilepsy, idiopathic generalized 10 32.6 GABRD GABRG2 ME2 SCN1A SCN2A TBC1D24
6 epilepsy 30.7 GABRD GABRG2 KCNQ2 SCN1A SCN1B STX1B
7 febrile seizures 30.5 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
8 epileptic encephalopathy, early infantile, 6 30.5 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN2A
9 generalized epilepsy with febrile seizures plus, type 3 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 indifference to pain, congenital, autosomal recessive 10.8 LOC101929680 SCN9A
17 myoclonic epilepsy of infancy 10.7 GABRG2 SCN1A SCN8A
18 early myoclonic encephalopathy 10.7 GABRG2 SCN1A SCN1B
19 paroxysmal extreme pain disorder 10.7 LOC101929680 SCN9A
20 infantile epileptic encephalopathy 10.5 SCN1A SCN2A SCN8A
21 epilepsy, nocturnal frontal lobe, 1 10.5 GABRG2 KCNQ2 SCN1A SCN1B
22 epilepsy with generalized tonic-clonic seizures 10.4 SCN1A SCN2A TBC1D24
23 malignant migrating partial seizures of infancy 10.4 SCN1A SCN2A TBC1D24
24 seizure disorder 10.4 KCNQ2 SCN1A SCN2A
25 hyperekplexia 10.4 GABRG2 SCN9A TBC1D24
26 neuronitis 10.4
27 benign neonatal seizures 10.3 KCNQ2 SCN2A
28 childhood electroclinical syndrome 10.3 GABRG2 KCNQ2 TBC1D24
29 lennox-gastaut syndrome 10.3 KCNQ2 SCN1A TBC1D24
30 adolescence-adult electroclinical syndrome 10.3 GABRD GABRG2 SCN1A TBC1D24
31 deafness, autosomal dominant 16 10.3 SCN2A SCN3A
32 benign familial infantile epilepsy 10.3 KCNQ2 SCN1B SCN2A SCN8A
33 benign familial neonatal epilepsy 10.3 KCNQ2 SCN2A TBC1D24
34 epileptic encephalopathy, early infantile, 15 10.3 KCNQ2 SCN1A SCN2A SCN8A
35 seizures, benign familial infantile, 3 10.2 GABRG2 KCNQ2 SCN1A SCN1B SCN2A
36 childhood absence epilepsy 10.2 GABRG2 ME2 SCN1B
37 neonatal period electroclinical syndrome 10.2 KCNQ2 SCN1A SCN2A TBC1D24
38 epileptic encephalopathy, early infantile, 1 10.1 KCNQ2 TBC1D24
39 autism 10.0
40 benign childhood occipital epilepsy, panayiotopoulos type 10.0
41 benign epilepsy with centrotemporal spikes 10.0 GABRG2 KCNQ2 SCN1B SCN2A TBC1D24
42 trigeminal neuralgia 9.9 SCN3A SCN9A
43 infancy electroclinical syndrome 9.8 GABRG2 KCNQ2 SCN1A SCN1B SCN2A TBC1D24
44 west syndrome 9.7 KCNQ2 LOC102724058 SCN1A SCN2A SCN8A TBC1D24
45 focal epilepsy 9.3 GABRD GABRG2 SCN1A SCN2A SCN3A SCN8A
46 trehalase deficiency 9.1 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A
47 epilepsy, idiopathic generalized 8.3 GABRD GABRG2 KCNQ2 ME2 SCN1A SCN1B

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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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 SCN8A SCN9A STX1B ADGRV1 GABRD GABRG2
2 nervous system MP:0003631 9.32 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
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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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 54)
# Title Authors Year
1
[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. ( 29429462 )
2018
2
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. ( 28704742 )
2017
3
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient. ( 23248692 )
2012
4
[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. ( 23158734 )
2012
5
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+). ( 22944210 )
2012
6
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. ( 21156207 )
2011
7
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. ( 21843600 )
2011
8
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. ( 20452746 )
2010
9
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. ( 20367785 )
2010
10
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488289 )
2010
11
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. ( 20117752 )
2010
12
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488261 )
2010
13
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. ( 20600615 )
2010
14
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488258 )
2010
15
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. ( 21488303 )
2010
16
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. ( 19236456 )
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
[Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. ( 19951487 )
2009
20
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? ( 19203856 )
2009
21
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. ( 19261880 )
2009
22
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. ( 18846619 )
2008
23
[Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. ( 18458705 )
2008
24
A novel locus for generalized epilepsy with febrile seizures plus in French families. ( 18625863 )
2008
25
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. ( 19065515 )
2008
26
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. ( 18566737 )
2008
27
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. ( 18846618 )
2008
28
[Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. ( 19171087 )
2008
29
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. ( 17629415 )
2007
30
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). ( 16359471 )
2005
31
[Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. ( 16053169 )
2005
32
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
33
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). ( 15508917 )
2005
34
Autism in several members of a family with generalized epilepsy with febrile seizures plus. ( 15605469 )
2004
35
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. ( 14738422 )
2004
36
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. ( 14702334 )
2004
37
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). ( 12576172 )
2003
38
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. ( 12919402 )
2003
39
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. ( 12535936 )
2003
40
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. ( 12486163 )
2002
41
Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). ( 12060016 )
2002
42
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. ( 11748509 )
2002
43
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. ( 12011299 )
2002
44
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. ( 11756608 )
2001
45
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. ( 11254444 )
2001
46
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. ( 11591834 )
2001
47
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. ( 11313220 )
2001
48
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. ( 11254445 )
2001
49
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. ( 11567038 )
2001
50
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. ( 10677328 )
2000
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 384)
# 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
2 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
3 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
4 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
5 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
6 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
7 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh37 Chromosome 2, 167060981: 167060984
8 SCN9A NM_002977.3(SCN9A): c.4366-10_4366-7delGTTT deletion Benign rs77944059 GRCh38 Chromosome 2, 166204471: 166204474
9 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh37 Chromosome 2, 167137119: 167137119
10 SCN9A NM_002977.3(SCN9A): c.2072-14C> T single nucleotide variant Benign rs6432893 GRCh38 Chromosome 2, 166280609: 166280609
11 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh37 Chromosome 2, 167137120: 167137120
12 SCN9A NM_002977.3(SCN9A): c.2072-15G> A single nucleotide variant Benign rs4525717 GRCh38 Chromosome 2, 166280610: 166280610
13 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
14 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
15 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
16 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
17 SCN1B NM_001037.4(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 GRCh38 Chromosome 19, 35033703: 35033703
18 SCN1B NM_001037.4(SCN1B): c.412G> A (p.Val138Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72558029 GRCh37 Chromosome 19, 35524607: 35524607
19 SCN1B NM_001037.4(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 GRCh38 Chromosome 19, 35030848: 35030848
20 SCN1B NM_001037.4(SCN1B): c.28G> A (p.Gly10Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72552027 GRCh37 Chromosome 19, 35521752: 35521752
21 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
22 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
23 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
24 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
25 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
26 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265
27 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh37 Chromosome 2, 167094721: 167094721
28 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 GRCh38 Chromosome 2, 166238211: 166238211
29 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
30 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
31 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh37 Chromosome 2, 167083161: 167083161
32 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 GRCh38 Chromosome 2, 166226651: 166226651
33 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh37 Chromosome 2, 167055370: 167055370
34 SCN9A NM_002977.3(SCN9A): c.5746C> T (p.Leu1916Phe) single nucleotide variant Benign/Likely benign rs111558968 GRCh38 Chromosome 2, 166198860: 166198860
35 GABRG2 NM_000816.3(GABRG2): c.107+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369466385 GRCh38 Chromosome 5, 162068118: 162068118
36 GABRG2 NM_000816.3(GABRG2): c.107+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369466385 GRCh37 Chromosome 5, 161495124: 161495124
37 GABRG2 NM_000816.3(GABRG2): c.922+6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375294947 GRCh38 Chromosome 5, 162142322: 162142322
38 GABRG2 NM_000816.3(GABRG2): c.922+6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375294947 GRCh37 Chromosome 5, 161569328: 161569328
39 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh37 Chromosome 2, 167055438: 167055438
40 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 GRCh38 Chromosome 2, 166198928: 166198928
41 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh37 Chromosome 2, 167134706: 167134706
42 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 GRCh38 Chromosome 2, 166278196: 166278196
43 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh37 Chromosome 2, 167163549: 167163549
44 SCN9A NM_002977.3(SCN9A): c.294C> A (p.Phe98Leu) single nucleotide variant Uncertain significance rs199824489 GRCh38 Chromosome 2, 166307039: 166307039
45 SCN9A NM_002977.3(SCN9A): c.4366-14G> T single nucleotide variant Likely benign rs112927502 GRCh38 Chromosome 2, 166204478: 166204478
46 SCN9A NM_002977.3(SCN9A): c.4366-14G> T single nucleotide variant Likely benign rs112927502 GRCh37 Chromosome 2, 167060988: 167060988
47 SCN9A NM_002977.3(SCN9A): c.2157G> C (p.Trp719Cys) single nucleotide variant Benign/Likely benign rs202055175 GRCh37 Chromosome 2, 167137020: 167137020
48 SCN9A NM_002977.3(SCN9A): c.2157G> C (p.Trp719Cys) single nucleotide variant Benign/Likely benign rs202055175 GRCh38 Chromosome 2, 166280510: 166280510
49 SCN9A NM_002977.3(SCN9A): c.4282G> A (p.Val1428Ile) single nucleotide variant Likely benign rs149346064 GRCh37 Chromosome 2, 167083160: 167083160
50 SCN9A NM_002977.3(SCN9A): c.4282G> A (p.Val1428Ile) single nucleotide variant Likely benign rs149346064 GRCh38 Chromosome 2, 166226650: 166226650
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
 13.25 KCNQ2 SCN1A SCN1B SCN2A SCN3A SCN8A
2
G-Beta Gamma Signaling 64
Show member pathways
 12.75 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
3
Cardiac conduction 66
Show member pathways
 12.57 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
4
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.39 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
5
Neuroscience 4
12.27 KCNQ2 SCN1A SCN1B SCN2A SCN8A SCN9A
6
Taste transduction 37
Show member pathways
 11.74 SCN2A SCN3A SCN9A
7
L1CAM interactions 66
Show member pathways
 11.6 KCNQ2 SCN1A SCN1B SCN2A SCN3A SCN8A
8
Phase 0 - rapid depolarisation 66
Show member pathways
 11.51 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
9
Synaptic Neurotransmission Pathways: GABAergic Inhibition 65
10.69 GABRD GABRG2
10
Interaction between L1 and Ankyrins 66
10.64 KCNQ2 SCN1A SCN1B SCN2A SCN3A 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 9.76 GABRG2 SCN1A SCN2A STX1B
2 intercalated disc GO:0014704 9.54 SCN1A SCN1B SCN2A
3 T-tubule GO:0030315 9.5 SCN1A SCN1B SCN2A
4 GABA-A receptor complex GO:1902711 9.43 GABRD GABRG2
5 axon initial segment GO:0043194 9.43 KCNQ2 SCN1A SCN8A
6 node of Ranvier GO:0033268 9.35 KCNQ2 SCN1A SCN1B SCN2A SCN8A
7 sodium channel complex GO:0034706 9.33 SCN1A SCN1B SCN2A
8 voltage-gated sodium channel complex GO:0001518 9.1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
9 integral component of membrane GO:0016021 10.26 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B
10 plasma membrane GO:0005886 10.22 ADGRV1 GABRD GABRG2 KCNQ2 SCN1A SCN1B

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 ion transmembrane transport GO:0034220 9.92 GABRD GABRG2 KCNQ2 SCN1A SCN2A SCN3A
2 transmembrane transport GO:0055085 9.91 KCNQ2 SCN1A SCN2A SCN3A SCN8A SCN9A
3 sodium ion transport GO:0006814 9.88 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
4 chemical synaptic transmission GO:0007268 9.8 GABRD GABRG2 KCNQ2 SCN1B
5 sodium ion transmembrane transport GO:0035725 9.73 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
6 regulation of membrane potential GO:0042391 9.7 GABRD GABRG2 SCN1A
7 nervous system process GO:0050877 9.63 ADGRV1 GABRD GABRG2
8 membrane depolarization during action potential GO:0086010 9.55 SCN1A SCN2A SCN3A SCN8A SCN9A
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.51 SCN1A SCN1B
10 neuronal action potential propagation GO:0019227 9.48 SCN1A SCN1B
11 neuronal action potential GO:0019228 9.35 SCN1A SCN2A SCN3A SCN8A SCN9A
12 regulation of ion transmembrane transport GO:0034765 9.17 KCNQ2 SCN1A SCN1B SCN2A SCN3A SCN8A
13 ion transport GO:0006811 10.02 GABRD GABRG2 KCNQ2 SCN1A SCN1B SCN2A

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 GABRD GABRG2 SCN1A SCN2A SCN3A SCN8A
2 cation channel activity GO:0005261 9.72 SCN1A SCN2A SCN3A SCN8A SCN9A
3 voltage-gated ion channel activity GO:0005244 9.7 KCNQ2 SCN1A SCN1B SCN2A SCN3A SCN8A
4 sodium channel activity GO:0005272 9.43 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
5 GABA-A receptor activity GO:0004890 9.37 GABRD GABRG2
6 voltage-gated sodium channel activity GO:0005248 9.1 SCN1A SCN1B SCN2A SCN3A 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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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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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