GEFS+
MCID: GNR002
MIFTS: 54

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus:

Name: Generalized Epilepsy with Febrile Seizures Plus 12 29 6 15 71
Gefs+ 12 58
Epilepsy, Generalized, with Febrile Seizures Plus 39
Generalized Epilepsy with Febrile Seizures-Plus 58
Genetic Epilepsy with Febrile Seizures-Plus 58

Characteristics:

Orphanet epidemiological data:

58
generalized epilepsy with febrile seizures-plus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060170
ICD10 32 G40.3
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 72 C3502809
Orphanet 58 ORPHA36387
UMLS 71 C3502809

Summaries for Generalized Epilepsy with Febrile Seizures Plus

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

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, also known as gefs+, is related to generalized epilepsy with febrile seizures plus, type 7 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, endothelial and breast, and related phenotypes are febrile seizures and ataxia

Wikipedia : 74 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:

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 161)
# 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 1 35.8 SCN7A SCN1B SCN1A LOC102724058
3 generalized epilepsy with febrile seizures plus, type 2 35.7 SCN1A LOC102724058
4 genetic epilepsy with febrile seizures plus 34.3 SCN9A SCN2A SCN1A
5 epileptic encephalopathy, early infantile, 6 33.5 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
6 febrile seizures 33.5 STX1B SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A
7 seizure disorder 32.5 SCN2A SCN1A KCNQ2
8 visual epilepsy 32.3 STX1B SCN2A SCN1B SCN1A KCNQ2 GABRG2
9 myoclonic epilepsy of infancy 31.7 SCN8A SCN1A GABRG2
10 epilepsy 31.6 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
11 epilepsy, idiopathic generalized 31.6 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
12 early myoclonic encephalopathy 31.6 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ2
13 scn1a seizure disorders 31.5 SCN9A SCN1B SCN1A
14 focal epilepsy 31.2 SCN8A SCN3A SCN2A SCN1B SCN1A LOC102724058
15 febrile seizures, familial, 1 31.2 SCN9A SCN1A-AS1 ADGRV1
16 epilepsy with generalized tonic-clonic seizures 31.1 SCN2A SCN1B SCN1A GABRG2
17 migraine with or without aura 1 31.0 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ2
18 epilepsy, myoclonic juvenile 31.0 STX1B SCN2A SCN1B SCN1A KCNQ2 GABRG2
19 childhood absence epilepsy 30.8 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ2
20 brugada syndrome 30.8 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
21 familial febrile seizures 30.8 SCN9A SCN1A-AS1 SCN1A GABRG2 ADGRV1
22 autism 30.8 SCN8A SCN3A SCN2A SCN1A HCN1 GABRG2
23 autism spectrum disorder 30.7 SCN2A SCN1A HCN1 GABRG2 GABRD
24 lennox-gastaut syndrome 30.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
25 generalized epilepsy with febrile seizures plus, type 9 13.2
26 generalized epilepsy with febrile seizures plus, type 6 13.1
27 generalized epilepsy with febrile seizures plus, type 10 13.1
28 generalized epilepsy with febrile seizures plus, type 8 13.0
29 generalized epilepsy with febrile seizures plus, type 4 13.0
30 epilepsy, idiopathic generalized 10 12.6
31 febrile seizures, familial, 8 12.6
32 scn1a-related seizure disorders 11.5
33 neuroblastoma 10.9
34 verbal auditory agnosia 10.7 SCN1B GABRG2
35 plagiocephaly 10.7 SCN1A LOC102724058
36 epilepsy, nocturnal frontal lobe, 1 10.6 SCN1B SCN1A KCNQ2 GABRG2
37 epileptic encephalopathy, early infantile, 13 10.6 SCN8A SCN1B SCN1A
38 indifference to pain, congenital, autosomal recessive 10.6 SCN9A SCN1A-AS1
39 progressive familial heart block, type ia 10.6 SCN9A SCN8A SCN3A SCN1A
40 partial motor epilepsy 10.6 SCN2A SCN1A KCNQ2
41 neuropathy, hereditary sensory and autonomic, type vii 10.6 SCN1A SCN3A SCN2A
42 benign familial neonatal epilepsy 10.6 SCN2A SCN1A KCNQ2
43 early onset absence epilepsy 10.6 SCN2A SCN1B SCN1A KCNQ2 GABRG2
44 seizures, benign familial infantile, 3 10.6 SCN2A KCNQ2
45 low-grade astrocytoma 10.6 SCN8A SCN3A SCN2A SCN1A
46 photosensitive epilepsy 10.6 STX1B SCN1A KCNQ2 GABRG2 GABRD
47 epileptic encephalopathy, early infantile, 9 10.6 SCN2A SCN1A KCNQ2
48 trigeminal nerve disease 10.6 SCN9A SCN8A SCN3A
49 benign neonatal seizures 10.6 SCN2A SCN1B SCN1A KCNQ2 GABRG2
50 paine syndrome 10.6 SCN9A SCN8A SCN3A SCN1A

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

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 febrile seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002373
2 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
3 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
4 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
5 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
6 generalized myoclonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002123
7 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
8 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
9 atonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
10 cortical dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002539
11 incoordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002311
12 generalized cerebral atrophy/hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007058
13 eeg with spike-wave complexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010850
14 obtundation status 58 31 occasional (7.5%) Occasional (29-5%) HP:0011151
15 tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0001337
16 pes planus 58 31 very rare (1%) Very rare (<4-1%) HP:0001763
17 anxiety 58 31 very rare (1%) Very rare (<4-1%) HP:0000739
18 focal impaired awareness seizure 58 31 very rare (1%) Very rare (<4-1%) HP:0002384
19 autistic behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000729
20 bradykinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0002067
21 tibial torsion 58 31 very rare (1%) Very rare (<4-1%) HP:0100694
22 obsessive-compulsive trait 58 31 very rare (1%) Very rare (<4-1%) HP:0008770
23 talipes valgus 58 31 very rare (1%) Very rare (<4-1%) HP:0004684
24 limited knee extension 58 31 very rare (1%) Very rare (<4-1%) HP:0003066
25 generalized-onset seizure 58 Very frequent (99-80%)
26 absence seizure 58 Frequent (79-30%)
27 status epilepticus 58 Very rare (<4-1%)
28 focal-onset seizure 58 Very rare (<4-1%)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ADGRV1 GABRD GABRG2 HCN1 KCNQ2 SCN1A
2 nervous system MP:0003631 9.36 ADGRV1 GABRD GABRG2 HCN1 KCNQ2 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:

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

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus

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

40
T Cells, Endothelial, Breast, Neutrophil, Brain, Myeloid, Lung

Publications for Generalized Epilepsy with Febrile Seizures Plus

Articles related to Generalized Epilepsy with Febrile Seizures Plus:

(show top 50) (show all 1597)
# Title Authors PMID Year
1
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. 61 6
18479394 2008
2
SCN1A Seizure Disorders 61 6
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. 61 6
17148443 2007
4
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 61 6
17020904 2007
5
A novel GABRG2 mutation associated with febrile seizures. 61 6
16924025 2006
6
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 61 6
14504340 2003
7
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 61 6
12566275 2003
8
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 61 6
12011299 2002
9
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 61 6
11866477 2002
10
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 61 6
11748509 2002
11
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. 61 6
11756608 2001
12
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 61 6
11591834 2001
13
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. 61 6
11524484 2001
14
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. 61 6
11326274 2001
15
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 61 6
11254444 2001
16
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 61 6
11254445 2001
17
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 61 6
10742094 2000
18
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. 61 6
10521305 1999
19
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 61 6
10486327 1999
20
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 61 6
9894880 1999
21
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 61 6
9697698 1998
22
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 6
25362483 2014
23
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. 6
23935098 2013
24
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
25
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 6
20437590 2010
26
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 6
19763161 2009
27
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 6
16510738 2006
28
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 6
16505326 2006
29
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 6
16205844 2005
30
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 6
15710580 2005
31
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. 6
15342642 2004
32
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 6
12117362 2002
33
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 6
11326275 2001
34
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures. 6
10852559 2000
35
Locus for febrile seizures. 6
10852560 2000
36
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. 6
10514109 1999
37
FARP1 boosts CDC42 activity from integrin αvβ5 signaling and correlates with poor prognosis of advanced gastric cancer. 61
32029704 2020
38
Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. 61
31786370 2020
39
Multifaceted role of SMCR8 as autophagy regulator. 61
28696821 2020
40
DOCK family proteins: key players in immune surveillance mechanisms. 61
31630188 2020
41
Regulation and functions of RhoU and RhoV. 61
29189096 2020
42
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. 61
31765958 2020
43
Signaling adaptor protein Crk is involved in malignant feature of pancreatic cancer associated with phosphorylation of c-Met. 61
32005519 2020
44
Phosphatidic acid regulates subcellular distribution of RA-GEFs critical for chemokine-dependent migration. 61
31996307 2020
45
Rab35-GEFs, DENND1A and folliculin differentially regulate podocalyxin trafficking in two- and three-dimensional epithelial cell cultures. 61
31992598 2020
46
Vav2 lacks calcium entry-promoting scaffolding functions unique to Vav1 and inhibits T cell activation via Cdc42. 61
31974114 2020
47
The small GTPase Rab5a and its guanine nucleotide exchange factors are involved in post-Golgi trafficking of storage proteins in developing soybean cotyledon. 61
31624827 2020
48
A novel interplay between GEFs orchestrates Cdc42 activity during cell polarity and cytokinesis in fission yeast. 61
31719163 2019
49
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. 61
31904127 2019
50
SCN1A-related phenotypes: Epilepsy and beyond. 61
31904117 2019

Variations for Generalized Epilepsy with Febrile Seizures Plus

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

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)SNV Pathogenic/Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
2 SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508
3 SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746
4 SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
5 SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452
6 SCN1B NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)SNV Conflicting interpretations of pathogenicity 180508 rs72558029 19:35524607-35524607 19:35033703-35033703
7 SCN1B NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)SNV Conflicting interpretations of pathogenicity 190869 rs72552027 19:35521752-35521752 19:35030848-35030848
8 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
9 SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211
10 SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432
11 SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651
12 GABRG2 NM_198903.2(GABRG2):c.107+12C>TSNV Conflicting interpretations of pathogenicity 205537 rs369466385 5:161495124-161495124 5:162068118-162068118
13 GABRG2 NM_198903.2(GABRG2):c.1042+6A>GSNV Conflicting interpretations of pathogenicity 205533 rs375294947 5:161569328-161569328 5:162142322-162142322
14 SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928
15 SCN9A NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)SNV Conflicting interpretations of pathogenicity 6367 rs121908919 2:167138296-167138296 2:166281786-166281786
16 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
17 GABRG2 NM_198903.2(GABRG2):c.243T>A (p.Leu81=)SNV Conflicting interpretations of pathogenicity 137417 rs143295869 5:161520969-161520969 5:162093963-162093963
18 SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
19 SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474
20 SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368
21 SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=)SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544
22 SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803
23 SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714
24 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
25 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
26 SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161
27 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
28 SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730
29 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
30 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
31 GABRG2 NM_198903.2(GABRG2):c.-4deldeletion Conflicting interpretations of pathogenicity 352637 rs771282908 5:161494991-161494991 5:162067985-162067985
32 GABRG2 NM_198903.2(GABRG2):c.1292G>A (p.Arg431His)SNV Conflicting interpretations of pathogenicity 352642 rs528036202 5:161580118-161580118 5:162153112-162153112
33 GABRG2 NM_198903.2(GABRG2):c.-4dupduplication Conflicting interpretations of pathogenicity 352636 rs771282908 5:161494990-161494991 5:162067984-162067985
34 GABRG2 NM_198903.2(GABRG2):c.1509G>A (p.Leu503=)SNV Conflicting interpretations of pathogenicity 352644 rs765904792 5:161580335-161580335 5:162153329-162153329
35 GABRG2 NM_198903.2(GABRG2):c.135C>T (p.Asp45=)SNV Conflicting interpretations of pathogenicity 352639 rs375308385 5:161520861-161520861 5:162093855-162093855
36 GABRG2 NM_198903.2(GABRG2):c.*32T>CSNV Uncertain significance 352646 rs749257839 5:161580406-161580406 5:162153400-162153400
37 GABRG2 NM_198903.2(GABRG2):c.*1427C>TSNV Uncertain significance 352661 rs375013278 5:161581801-161581801 5:162154795-162154795
38 GABRG2 NM_198903.2(GABRG2):c.*1889C>ASNV Uncertain significance 352667 rs886060388 5:161582263-161582263 5:162155257-162155257
39 GABRG2 NM_198903.2(GABRG2):c.*1981G>CSNV Uncertain significance 352669 rs886060389 5:161582355-161582355 5:162155349-162155349
40 GABRG2 NM_198903.2(GABRG2):c.*1392A>TSNV Uncertain significance 352660 rs886060386 5:161581766-161581766 5:162154760-162154760
41 GABRG2 NM_198903.2(GABRG2):c.*1468A>GSNV Uncertain significance 352662 rs372041761 5:161581842-161581842 5:162154836-162154836
42 GABRG2 NM_198903.2(GABRG2):c.-334C>TSNV Uncertain significance 352627 rs886060374 5:161494672-161494672 5:162067666-162067666
43 GABRG2 NM_198903.2(GABRG2):c.-241A>CSNV Uncertain significance 352630 rs886060377 5:161494765-161494765 5:162067759-162067759
44 GABRG2 NM_198903.2(GABRG2):c.-104T>GSNV Uncertain significance 352635 rs886060380 5:161494902-161494902 5:162067896-162067896
45 SCN1B NM_001037.5(SCN1B):c.-132C>GSNV Uncertain significance 328829 rs886054339 19:35521593-35521593 19:35030689-35030689
46 GABRG2 NM_198903.2(GABRG2):c.*194G>ASNV Uncertain significance 352647 rs758832535 5:161580568-161580568 5:162153562-162153562
47 GABRG2 NM_198903.2(GABRG2):c.*250A>CSNV Uncertain significance 352649 rs886060384 5:161580624-161580624 5:162153618-162153618
48 GABRG2 NM_198903.2(GABRG2):c.-114T>CSNV Uncertain significance 352634 rs886060379 5:161494892-161494892 5:162067886-162067886
49 GABRG2 NM_198903.2(GABRG2):c.1454G>A (p.Arg485His)SNV Uncertain significance 352643 rs587780341 5:161580280-161580280 5:162153274-162153274
50 GABRG2 NM_198903.2(GABRG2):c.1545G>A (p.Leu515=)SNV Uncertain significance 352645 rs886060383 5:161580371-161580371 5:162153365-162153365

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 STX1B SCN9A SCN8A SCN7A SCN3A SCN2A
2
Show member pathways
12.82 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
3
Show member pathways
12.64 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
4
Show member pathways
12.46 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
5 12.33 SCN9A SCN8A SCN7A SCN2A SCN1B SCN1A
6
Show member pathways
11.74 SCN9A SCN3A SCN2A
7
Show member pathways
11.65 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
8
Show member pathways
11.57 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
9 10.7 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
10 10.69 GABRG2 GABRD

GO Terms for Generalized Epilepsy with Febrile Seizures Plus

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 STX1B SGCZ SCN9A SCN8A SCN7A SCN3A
2 integral component of membrane GO:0016021 10.28 STX1B SGCZ SCN9A SCN8A SCN7A SCN3A
3 plasma membrane GO:0005886 10.2 STX1B SGCZ SCN9A SCN8A SCN7A SCN3A
4 integral component of plasma membrane GO:0005887 10.02 SCN9A SCN2A SCN1B KCNQ2 HCN1 GABRG2
5 cell projection GO:0042995 9.99 SCN9A SCN8A SCN1B MTMR9 GABRG2 ADGRV1
6 axon GO:0030424 9.65 STX1B SCN9A SCN8A SCN7A SCN3A SCN2A
7 intercalated disc GO:0014704 9.63 SCN2A SCN1B SCN1A
8 T-tubule GO:0030315 9.58 SCN2A SCN1B SCN1A
9 node of Ranvier GO:0033268 9.55 SCN8A SCN2A SCN1B SCN1A KCNQ2
10 axon initial segment GO:0043194 9.54 SCN8A SCN1A KCNQ2
11 sodium channel complex GO:0034706 9.43 SCN2A SCN1B SCN1A
12 voltage-gated sodium channel complex GO:0001518 9.17 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.11 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
2 transmembrane transport GO:0055085 10.03 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
3 ion transmembrane transport GO:0034220 10.01 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
4 sodium ion transport GO:0006814 9.86 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
5 neuronal action potential GO:0019228 9.8 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
6 regulation of membrane potential GO:0042391 9.76 SCN1A HCN1 GABRG2 GABRD
7 nervous system process GO:0050877 9.65 GABRG2 GABRD ADGRV1
8 membrane depolarization during action potential GO:0086010 9.63 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
9 regulation of ion transmembrane transport GO:0034765 9.61 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.51 SCN1B SCN1A
11 neuronal action potential propagation GO:0019227 9.49 SCN1B SCN1A
12 sodium ion transmembrane transport GO:0035725 9.23 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B

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 9.91 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
2 voltage-gated ion channel activity GO:0005244 9.81 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
3 sodium channel activity GO:0005272 9.56 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
4 GABA-A receptor activity GO:0004890 9.32 GABRG2 GABRD
5 voltage-gated sodium channel activity GO:0005248 9.23 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B

Sources for Generalized Epilepsy with Febrile Seizures Plus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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