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GEFS+
MCID: GNR002
MIFTS: 55

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Categories: Eye diseases, 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 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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


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Summaries for Generalized Epilepsy with Febrile Seizures Plus

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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 1 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 febrile seizure (within the age range of 3 months to 6 years) and generalized non-motor (absence) seizure

Wikipedia : 74 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 171)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 35.8 SCN7A SCN1B SCN1A LOC102724058 GABRG2
2 generalized epilepsy with febrile seizures plus, type 2 35.7 SCN9A SCN1B SCN1A LOC102724058 GABRG2 GABRD
3 generalized epilepsy with febrile seizures plus, type 7 35.7 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
4 generalized epilepsy with febrile seizures plus, type 6 35.6 MTMR9 GEFSP6
5 generalized epilepsy with febrile seizures plus, type 4 35.4 GEFSP4 GABRD
6 febrile seizures, familial, 8 34.8 SCN1B SCN1A GABRG2 GABRD ADGRV1
7 genetic epilepsy with febrile seizures plus 34.3 SCN9A SCN2A SCN1A
8 epileptic encephalopathy, early infantile, 6 33.5 STX1B SCN9A SCN8A SCN7A SCN3A SCN2A
9 febrile seizures 33.4 STX1B SCN9A SCN8A SCN2A SCN1B SCN1A-AS1
10 seizure disorder 32.4 SCN2A SCN1A KCNQ2
11 visual epilepsy 32.3 STX1B SCN8A SCN2A SCN1B SCN1A KCNQ2
12 myoclonic epilepsy of infancy 31.7 SCN8A SCN1A GABRG2
13 epilepsy 31.6 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
14 epilepsy, idiopathic generalized 31.6 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
15 early myoclonic encephalopathy 31.6 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ2
16 scn1a seizure disorders 31.4 SCN9A SCN1A
17 febrile seizures, familial, 1 31.3 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
18 focal epilepsy 31.2 SCN8A SCN3A SCN2A SCN1B SCN1A LOC102724058
19 febrile seizures, familial, 2 31.1 SCN2A SCN1B SCN1A GABRG2
20 epilepsy with generalized tonic-clonic seizures 31.1 SCN2A SCN1B SCN1A GABRG2 GABRD
21 epilepsy, myoclonic juvenile 31.0 STX1B SCN2A SCN1B SCN1A KCNQ2 GABRG2
22 migraine with or without aura 1 31.0 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ2
23 childhood absence epilepsy 30.8 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ2
24 brugada syndrome 30.8 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
25 autism 30.8 SCN8A SCN3A SCN2A SCN1A HCN1 GABRG2
26 autism spectrum disorder 30.8 SCN2A SCN1A HCN1 GABRG2 GABRD
27 familial febrile seizures 30.5 SCN9A SCN3A SCN2A SCN1B SCN1A-AS1 SCN1A
28 lennox-gastaut syndrome 30.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
29 generalized epilepsy with febrile seizures plus, type 9 13.2
30 generalized epilepsy with febrile seizures plus, type 10 13.1
31 generalized epilepsy with febrile seizures plus, type 8 13.1
32 epilepsy, idiopathic generalized 10 12.6
33 scn1a-related seizure disorders 11.5
34 neuroblastoma 10.9
35 febrile seizures, familial, 6 10.6 SCN1B SCN1A GABRG2
36 febrile seizures, familial, 5 10.6 SCN2A SCN1B SCN1A GABRG2
37 plagiocephaly 10.6 SCN1A LOC102724058
38 epileptic encephalopathy, early infantile, 13 10.6 SCN8A SCN2A SCN1B SCN1A
39 epilepsy, nocturnal frontal lobe, 1 10.6 SCN1B SCN1A KCNQ2 GABRG2
40 episodic pain syndrome, familial, 2 10.6 SCN9A SCN3A SCN2A SCN1A
41 verbal auditory agnosia 10.6 SCN1B GABRG2
42 paramyotonia congenita of von eulenburg 10.6 SCN9A SCN2A SCN1B SCN1A
43 febrile seizures, familial, 11 10.6 SCN1A GABRG2 GABRD
44 landau-kleffner syndrome 10.6 SCN2A SCN1A KCNQ2 GABRG2
45 partial motor epilepsy 10.6 SCN2A SCN1A KCNQ2
46 progressive familial heart block, type ia 10.6 SCN9A SCN8A SCN3A SCN1A
47 migraine, familial hemiplegic, 3 10.6 SCN9A SCN3A SCN2A SCN1A
48 early onset absence epilepsy 10.6 SCN2A SCN1B SCN1A KCNQ2 GABRG2
49 neuropathy, hereditary sensory and autonomic, type vii 10.6 SCN3A SCN2A SCN1A
50 trigeminal nerve disease 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
Sources

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus

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Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus:

31 58 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 frequent (33%) HP:0002373
2 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
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 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
7 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
8 generalized cerebral atrophy/hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007058
9 incoordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0002311
10 cortical dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002539
11 eeg with spike-wave complexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010850
12 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
13 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
14 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
15 atypical absence status epilepticus 31 occasional (7.5%) HP:0011151
16 pes planus 58 31 very rare (1%) Very rare (<4-1%) HP:0001763
17 tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0001337
18 anxiety 58 31 very rare (1%) Very rare (<4-1%) HP:0000739
19 focal impaired awareness seizure 58 31 very rare (1%) Very rare (<4-1%) HP:0002384
20 autistic behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000729
21 tibial torsion 58 31 very rare (1%) Very rare (<4-1%) HP:0100694
22 bradykinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0002067
23 obsessive-compulsive trait 58 31 very rare (1%) Very rare (<4-1%) HP:0008770
24 limited knee extension 58 31 very rare (1%) Very rare (<4-1%) HP:0003066
25 talipes valgus 58 31 very rare (1%) Very rare (<4-1%) HP:0004684
26 generalized myoclonic seizures 58 Occasional (29-5%)
27 generalized tonic-clonic seizures 58 Occasional (29-5%)
28 status epilepticus 58 Very rare (<4-1%)
29 focal-onset seizure 58 Very rare (<4-1%)
30 generalized-onset seizure 58 Very frequent (99-80%)
31 absence seizure 58 Frequent (79-30%)
32 febrile seizures 58 Frequent (79-30%)
33 obtundation status 58 Occasional (29-5%)

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
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:

40
Endothelial, Brain, Breast, T Cells, Neutrophil, Smooth Muscle, Lung
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 1622)
# 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
A novel GABRG2 mutation associated with febrile seizures. 6 61
16924025 2006
5
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 6 61
14504340 2003
6
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. 61 6
12566275 2003
7
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 61 6
12011299 2002
8
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 6 61
11866477 2002
9
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 6 61
11748509 2002
10
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. 6 61
11756608 2001
11
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. 6 61
11591834 2001
12
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. 61 6
11524484 2001
13
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. 61 6
11326274 2001
14
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 6 61
11254444 2001
15
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 6 61
11254445 2001
16
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 61 6
10742094 2000
17
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. 6 61
10521305 1999
18
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 61 6
10486327 1999
19
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 61 6
9894880 1999
20
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 6 61
9697698 1998
21
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 6
25362483 2014
22
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. 6
23935098 2013
23
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
24
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 6
19763161 2009
25
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 6
16510738 2006
26
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 6
16505326 2006
27
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. 6
15342642 2004
28
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 6
12117362 2002
29
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 6
11326275 2001
30
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures. 6
10852559 2000
31
Locus for febrile seizures. 6
10852560 2000
32
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. 6
10514109 1999
33
Rho guanosine nucleotide exchange factors are not such bad guys after all in cancera. 61
29313423 2020
34
GABRG2 Deletion Linked to Genetic Epilepsy with Febrile Seizures Plus Affects the Expression of GABAA Receptor Subunits and Other Genes at Different Temperatures. 61
32418750 2020
35
Coordinated Activation of ARF1 GTPases by ARF-GEF GNOM Dimers Is Essential for Vesicle Trafficking in Arabidopsis. 61
32487565 2020
36
Rab family of small GTPases: an updated view on their regulation and functions. 61
32542850 2020
37
Vav2 pharmaco-mimetic mice reveal the therapeutic value and caveats of the catalytic inactivation of a Rho exchange factor. 61
32528129 2020
38
ARF Family GTPases with Links to Cilia. 61
32520609 2020
39
De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+). 61
32540801 2020
40
The guanine nucleotide exchange factor VAV3 participates in ERBB4-mediated cancer cell migration. 61
32561640 2020
41
Vaccination management in an asymptomatic child with a novel SCN1A variant and family history of status epilepticus following vaccination: A case report on a potential new direction in personalised medicine. 61
32193085 2020
42
Kalirin and Trio: RhoGEFs in Synaptic Transmission, Plasticity, and Complex Brain Disorders. 61
32513570 2020
43
Multiplexed GTPase and GEF biosensor imaging enables network connectivity analysis. 61
32424303 2020
44
Pleiotropic Roles of Calmodulin in the Regulation of KRas and Rac1 GTPases: Functional Diversity in Health and Disease. 61
32456244 2020
45
Arhgap25 Deficiency Leads to Decreased Numbers of Peripheral Blood B Cells and Defective Germinal Center Reactions. 61
32434881 2020
46
Signaling adaptor protein Crk is involved in malignant feature of pancreatic cancer associated with phosphorylation of c-Met. 61
32005519 2020
47
Phosphatidic acid regulates subcellular distribution of RA-GEFs critical for chemokine-dependent migration. 61
31996307 2020
48
Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs. 61
32333796 2020
49
Rho Guanine Nucleotide Exchange Factors Regulate Horizontal Axon Branching of Cortical Upper Layer Neurons. 61
31768529 2020
50
Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. 61
32203420 2020
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 163) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1997A>G (p.Lys666Arg)SNV Conflicting interpretations of pathogenicity 6367 rs121908919 2:167138296-167138296 2:166281786-166281786
5 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
6 SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452
7 SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
8 SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211
9 SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432
10 SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651
11 SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928
12 SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
13 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
14 SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474
15 SCN9A NM_001365536.1(SCN9A):c.*3102C>TSNV Conflicting interpretations of pathogenicity 331898 rs182687583 2:167052080-167052080 2:166195570-166195570
16 SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368
17 SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803
18 SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=)SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544
19 SCN9A NM_001365536.1(SCN9A):c.*3426A>TSNV Conflicting interpretations of pathogenicity 331895 rs186838828 2:167051756-167051756 2:166195246-166195246
20 SCN9A NM_001365536.1(SCN9A):c.*1014G>ASNV Conflicting interpretations of pathogenicity 331937 rs200393413 2:167054168-167054168 2:166197658-166197658
21 SCN9A NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)SNV Conflicting interpretations of pathogenicity 331971 rs141040985 2:167108379-167108379 2:166251869-166251869
22 SCN9A NM_001365536.1(SCN9A):c.*124A>GSNV Conflicting interpretations of pathogenicity 331959 rs201137748 2:167055058-167055058 2:166198548-166198548
23 SCN9A NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)SNV Conflicting interpretations of pathogenicity 331979 rs201890077 2:167133515-167133515 2:166277005-166277005
24 SCN9A NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)SNV Conflicting interpretations of pathogenicity 331986 rs201318927 2:167141144-167141144 2:166284634-166284634
25 SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714
26 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
27 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
28 SCN9A NM_001365536.1(SCN9A):c.*2226T>GSNV Conflicting interpretations of pathogenicity 331915 rs141310425 2:167052956-167052956 2:166196446-166196446
29 SCN9A NM_001365536.1(SCN9A):c.*785C>TSNV Conflicting interpretations of pathogenicity 331943 rs181229506 2:167054397-167054397 2:166197887-166197887
30 SCN9A NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)SNV Conflicting interpretations of pathogenicity 331965 rs202235611 2:167085463-167085463 2:166228953-166228953
31 SCN9A NM_001365536.1(SCN9A):c.965+13T>CSNV Conflicting interpretations of pathogenicity 331997 rs772337722 2:167151096-167151096 2:166294586-166294586
32 SCN9A NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)SNV Conflicting interpretations of pathogenicity 332001 rs200826539 2:167168138-167168138 2:166311628-166311628
33 SCN9A NM_001365536.1(SCN9A):c.-277C>TSNV Conflicting interpretations of pathogenicity 332003 rs201445594 2:167232433-167232433 2:166375923-166375923
34 SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161
35 SCN9A NM_001365536.1(SCN9A):c.*2228G>TSNV Conflicting interpretations of pathogenicity 331914 rs200790957 2:167052954-167052954 2:166196444-166196444
36 SCN9A NM_001365536.1(SCN9A):c.*2191G>ASNV Conflicting interpretations of pathogenicity 331918 rs201184093 2:167052991-167052991 2:166196481-166196481
37 SCN9A NM_001365536.1(SCN9A):c.*2078C>TSNV Conflicting interpretations of pathogenicity 331923 rs548072061 2:167053104-167053104 2:166196594-166196594
38 SCN9A NM_001365536.1(SCN9A):c.*2344C>TSNV Conflicting interpretations of pathogenicity 331910 rs200962814 2:167052838-167052838 2:166196328-166196328
39 SCN9A NM_001365536.1(SCN9A):c.*669A>GSNV Conflicting interpretations of pathogenicity 331945 rs538508619 2:167054513-167054513 2:166198003-166198003
40 SCN9A NM_001365536.1(SCN9A):c.*217G>ASNV Conflicting interpretations of pathogenicity 331954 rs200625860 2:167054965-167054965 2:166198455-166198455
41 SCN9A NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)SNV Conflicting interpretations of pathogenicity 331961 rs201875421 2:167055770-167055770 2:166199260-166199260
42 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
43 SCN9A NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)SNV Conflicting interpretations of pathogenicity 331967 rs202047865 2:167094604-167094604 2:166238094-166238094
44 SCN9A NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)SNV Conflicting interpretations of pathogenicity 331972 rs201984007 2:167128917-167128917 2:166272407-166272407
45 SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730
46 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
47 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
48 SCN9A NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)SNV Conflicting interpretations of pathogenicity 331994 rs188798505 2:167145122-167145122 2:166288612-166288612
49 SCN9A NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)SNV Conflicting interpretations of pathogenicity 331998 rs755653914 2:167160751-167160751 2:166304241-166304241
50 GABRG2 NM_198903.2(GABRG2):c.-4deldeletion Conflicting interpretations of pathogenicity 352637 rs771282908 5:161494991-161494991 5:162067985-162067985
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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 65
Show member pathways
 13.3 STX1B SCN9A SCN8A SCN7A SCN3A SCN2A
2
G-Beta Gamma Signaling 63
Show member pathways
 12.82 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
3
Cardiac conduction 65
Show member pathways
 12.64 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
4
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.46 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
5
Neuroscience 4
12.33 SCN9A SCN8A SCN7A SCN2A SCN1B SCN1A
6
Taste transduction 36
Show member pathways
 11.74 SCN9A SCN3A SCN2A
7
L1CAM interactions 65
Show member pathways
 11.65 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
8
Phase 0 - rapid depolarisation 65
Show member pathways
 11.57 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
9
Interaction between L1 and Ankyrins 65
10.7 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
10
Synaptic Neurotransmission: GABAergic Inhibition 64
10.69 GABRG2 GABRD
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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 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 STX1B SGCZ SCN9A SCN8A SCN7A SCN3A
2 integral component of membrane GO:0016021 10.25 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 10 SCN9A SCN8A SCN1B MTMR9 GABRG2 ADGRV1
6 axon GO:0030424 9.7 STX1B SCN9A SCN8A SCN7A SCN3A SCN2A
7 T-tubule GO:0030315 9.63 SCN2A SCN1B SCN1A
8 intercalated disc GO:0014704 9.61 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 GABA-A receptor complex GO:1902711 9.49 GABRG2 GABRD
12 sodium channel complex GO:0034706 9.43 SCN2A SCN1B SCN1A
13 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 sodium ion transmembrane transport GO:0035725 9.56 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 regulation of ion transmembrane transport GO:0034765 9.28 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 voltage-gated ion channel activity GO:0005244 9.91 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
2 ion channel activity GO:0005216 9.85 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
3 cation channel activity GO:0005261 9.8 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.56 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
5 GABA-A receptor activity GO:0004890 9.37 GABRG2 GABRD
6 voltage-gated sodium channel activity GO:0005248 9.23 SCN9A SCN8A SCN7A SCN3A SCN2A SCN1B
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 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
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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