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GEFS+
MCID: GNR002
MIFTS: 56

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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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 11 42 28 5 43 14 71 75
Gefs+ 11 42 58
Epilepsy, Generalized, with Febrile Seizures Plus 38
Generalized Epilepsy with Febrile Seizures-Plus 58
Genetic Epilepsy with Febrile Seizures Plus 42
Genetic Epilepsy with Febrile Seizures-Plus 58

Characteristics:


Inheritance:

Generalized Epilepsy with Febrile Seizures-Plus: Autosomal dominant 58

Age Of Onset:

Generalized Epilepsy with Febrile Seizures-Plus: Childhood 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare neurological diseases


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Summaries for Generalized Epilepsy with Febrile Seizures Plus

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MedlinePlus Genetics: 42 Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are not related to fevers (afebrile seizures). The additional seizure types usually involve both sides of the brain (generalized seizures); however, seizures that involve only one side of the brain (partial seizures) occur in some affected individuals. The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for short periods that appear as staring spells.The most common and mildest feature of the GEFS+ spectrum is simple febrile seizures, which begin in infancy and usually stop by age 5. When the febrile seizures continue after age 5 or other types of seizure develop, the condition is called febrile seizures plus (FS+). Seizures in FS+ usually end in early adolescence.A condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have prolonged seizures lasting several minutes (status epilepticus), which are triggered by fever. Other seizure types, including afebrile seizures, begin in early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, and they can worsen over time. A decline in brain function is also common in Dravet syndrome. Affected individuals usually develop normally in the first year of life, but then development stalls, and some affected children lose already-acquired skills (developmental regression). Many people with Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.Some people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet syndrome.Family members with GEFS+ may have different combinations of febrile seizures and epilepsy. For example, one affected family member may have only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in families, it can occur in individuals with no history of the condition in their family.

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 Nervous system development and Transmission across Chemical Synapses. Affiliated tissues include brain, smooth muscle and endothelial, and related phenotypes are generalized non-motor (absence) seizure and febrile seizure (within the age range of 3 months to 6 years)

Orphanet: 58 Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Disease Ontology: 11 An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.

Wikipedia: 75 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...
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Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

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Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6
Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 7
Generalized Epilepsy with Febrile Seizures Plus, Type 9 Generalized Epilepsy with Febrile Seizures Plus, Type 10

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 2 33.9 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
2 generalized epilepsy with febrile seizures plus, type 1 33.9 SCN1B SCN1A GABRG2
3 generalized epilepsy with febrile seizures plus, type 7 33.8 SCN9A SCN1B SCN1A GEFSP7 GABRG2 GABRD
4 generalized epilepsy with febrile seizures plus, type 8 33.8 STX1B GEFSP8 GABRD
5 generalized epilepsy with febrile seizures plus, type 6 33.7 STX1B SCN1B GEFSP6 GABRG2 GABRD ADGRV1
6 generalized epilepsy with febrile seizures plus, type 4 33.7 STX1B SCN1B GEFSP4 GABRG2 GABRD ADGRV1
7 febrile seizures, familial, 8 33.7 SCN1B SCN1A GABRG2 GABRD ADGRV1
8 dravet syndrome 32.5 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
9 febrile seizures 32.2 SCN9A SCN8A SCN2A SCN1B SCN1A HCN1
10 epilepsy 31.8 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
11 ohtahara syndrome 31.5 SCN8A SCN2A SCN1A KCNQ2 HCN1
12 early myoclonic encephalopathy 31.4 STX1B SCN8A SCN2A SCN1B SCN1A KCNQ3
13 epilepsy, idiopathic generalized 31.3 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
14 focal epilepsy 31.3 SCN8A SCN2A SCN1A KCNQ2 GABRG2 GABRD
15 developmental and epileptic encephalopathy 31.1 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
16 early infantile epileptic encephalopathy 31.1 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
17 childhood absence epilepsy 31.0 STX1B SLC32A1 SCN8A SCN3A SCN2A SCN1B
18 juvenile absence epilepsy 30.9 SCN1A GABRG2 GABRD GABRB3 GABRA1
19 epilepsy with generalized tonic-clonic seizures 30.8 SCN8A SCN2A SCN1B SCN1A KCNQ2 GABRG2
20 autism spectrum disorder 30.8 SCN2A SCN1A HCN1 GABRG2 GABRD GABRB3
21 epilepsy, myoclonic juvenile 30.7 STX1B SCN8A SCN2A SCN1B SCN1A KCNQ3
22 autism 30.7 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
23 brugada syndrome 30.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
24 seizures, benign familial infantile, 3 30.3 SCN2A KCNQ2
25 benign neonatal seizures 30.3 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
26 migraine with or without aura 1 30.2 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
27 attention deficit-hyperactivity disorder 30.2 SLC32A1 SCN8A SCN2A SCN1A GABRB3
28 benign familial neonatal epilepsy 30.2 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
29 lennox-gastaut syndrome 30.1 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
30 familial febrile seizures 30.1 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
31 generalized epilepsy with febrile seizures plus, type 9 12.1
32 generalized epilepsy with febrile seizures plus, type 10 12.1
33 epilepsy, idiopathic generalized 10 12.0
34 visual epilepsy 11.1
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
36 epilepsy with myoclonic-atonic seizures 10.6
37 myoclonic epilepsy of infancy 10.6
38 developmental and epileptic encephalopathy 1 10.5 SCN8A SCN1A KCNQ2
39 developmental and epileptic encephalopathy 2 10.5 SCN8A SCN2A SCN1B SCN1A
40 febrile seizures, familial, 11 10.4 SCN1A GABRG2 GABRD ADGRV1
41 febrile seizures, familial, 9 10.4 STX1B SCN1B GABRG2 GABRD ADGRV1
42 febrile seizures, familial, 7 10.4 STX1B SCN1B GABRG2 GABRD ADGRV1
43 reflex epilepsy 10.4 SCN2A SCN1A GABRG2 ADGRV1
44 febrile seizures, familial, 4 10.4 SCN1B SCN1A GABRG2 GABRD ADGRV1
45 developmental and epileptic encephalopathy 52 10.4 SCN8A SCN1B SCN1A
46 landau-kleffner syndrome 10.4 SCN2A SCN1A KCNQ2 GABRG2
47 epilepsy, familial temporal lobe, 1 10.4 SCN1B SCN1A GABRG2 ADGRV1
48 developmental and epileptic encephalopathy 13 10.4 SCN8A SCN3A SCN2A SCN1B SCN1A
49 paramyotonia congenita of von eulenburg 10.4 SCN9A SCN8A SCN2A SCN1B SCN1A
50 developmental and epileptic encephalopathy 43 10.4 SCN1A GABRG2 GABRD GABRB3 GABRA1

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



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

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Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus:

58 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized non-motor (absence) seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002121
2 febrile seizure (within the age range of 3 months to 6 years) 30 Frequent (33%) HP:0002373
3 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001251
4 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001252
5 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002376
6 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100543
7 bilateral tonic-clonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002069
8 poor fine motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007010
9 incoordination 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002311
10 cortical dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002539
11 eeg with spike-wave complexes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010850
12 generalized cerebral atrophy/hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007058
13 atonic seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010819
14 generalized myoclonic seizure 30 Occasional (7.5%) HP:0002123
15 atypical absence status epilepticus 30 Occasional (7.5%) HP:0011151
16 tremor 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001337
17 pes planus 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001763
18 anxiety 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000739
19 autistic behavior 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000729
20 tibial torsion 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0100694
21 bradykinesia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002067
22 focal impaired awareness seizure 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002384
23 limited knee extension 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0003066
24 obsessive-compulsive trait 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0008770
25 talipes valgus 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0004684
26 generalized myoclonic seizures 58 Occasional (29-5%)
27 status epilepticus 58 Very rare (<4-1%)
28 focal-onset seizure 58 Very rare (<4-1%)
29 generalized-onset seizure 58 Very frequent (99-80%)
30 febrile seizures 58 Frequent (79-30%)
31 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 nervous system MP:0003631 10.2 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 HCN1
2 normal MP:0002873 10.02 GABRA1 GABRB3 GABRG2 HCN1 SCN1A SCN1B
3 growth/size/body region MP:0005378 10 GABRA1 GABRB3 GABRG2 HCN1 KCNQ2 KCNQ3
4 behavior/neurological MP:0005386 9.86 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 HCN1
5 hearing/vestibular/ear MP:0005377 9.73 ADGRV1 GABRA1 GABRB3 GABRD HCN1 SCN8A
6 mortality/aging MP:0010768 9.5 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 KCNQ2
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

Cochrane evidence based reviews: 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 28
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Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus

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Organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus:

MalaCards : Brain, Smooth Muscle, Endothelial, Temporal Lobe, Breast, Lung, Skeletal 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 1824)
# Title Authors PMID Year
1
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 62 5
20437590 2010
2
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 62 5
17020904 2007
3
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. 5
16205844 2005
4
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. 5
15710580 2005
5
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. 62
36073542 2022
6
Fission Yeast Rho1p-GEFs: From Polarity and Cell Wall Synthesis to Genome Stability. 62
36430366 2022
7
Substrate induced dynamical remodeling of the binding pocket generates GTPase specificity in DOCK family of guanine nucleotide exchange factors. 62
36162327 2022
8
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. 62
35696452 2022
9
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. 62
36288729 2022
10
Longin domain GAP complexes in nutrient signalling, membrane traffic and neurodegeneration. 62
36367440 2022
11
CdGAP maintains podocyte function and modulates focal adhesions in a Src kinase-dependent manner. 62
36333327 2022
12
Nonredundant Rac-GEF control of actin cytoskeleton reorganization. 62
35753960 2022
13
An ensemble data assimilation modeling system for operational outdoor microalgae growth forecasting. 62
36308743 2022
14
Trio and Kalirin as unique enactors of Rho/Rac spatiotemporal precision. 62
35872089 2022
15
Rap1 regulates apical contractility to allow embryonic morphogenesis without tissue disruption and acts in part via Canoe-independent mechanisms. 62
36287827 2022
16
Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies. 62
36231081 2022
17
Structural biology of DOCK-family guanine nucleotide exchange factors. 62
36271211 2022
18
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population. 62
36253532 2022
19
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy. 62
36291443 2022
20
Barley guanine nucleotide exchange factor HvGEF14 is an activator of the susceptibility factor HvRACB and supports host cell entry by Blumeria graminis f. sp. hordei. 62
35849420 2022
21
ARHGEF3 regulates the stability of ACLY to promote the proliferation of lung cancer. 62
36241648 2022
22
Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model. 62
36345448 2022
23
Design and Characterization of a Natural Arf-GEFs Inhibitor Prodrug CHNQD-01255 with Potent Anti-Hepatocellular Carcinoma Efficacy In Vivo. 62
36089748 2022
24
AMPK promotes Arf6 activation in a kinase-independent manner upon glucose starvation. 62
36017701 2022
25
Mechanism of the promotion of GEFS+ by the STAT3-mediated expression of interleukin-6. 62
36247897 2022
26
Outcomes of Candida and Non-Candida Aortic Graft Infection. 62
36148827 2022
27
Small GTPase FoSec4-Mediated Protein Secretion Is Important for Polarized Growth, Reproduction and Pathogenicity in the Banana Fusarium Wilt Fungus Fusarium odoratissimum. 62
36012867 2022
28
Goose IRF7 is involved in antivirus innate immunity by mediating IFN activation. 62
35562079 2022
29
Structural basis for activation of Arf1 at the Golgi complex. 62
36044848 2022
30
DOCK4 Regulation of Rho GTPases Mediates Pulmonary Vascular Barrier Function. 62
35477279 2022
31
A novel antiproliferative PKCα-Ras-ERK signaling axis in intestinal epithelial cells. 62
35697074 2022
32
Distinct GEFs Couple S1PR1 to Rac for Endothelial Barrier Enhancement and Lymphocyte Trafficking. 62
35616033 2022
33
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort. 62
35886038 2022
34
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome. 62
36158059 2022
35
Advancing early warning capabilities with CHIRPS-compatible NCEP GEFS precipitation forecasts. 62
35773449 2022
36
Integrating Activity-Guided Strategy and Fingerprint Analysis to Target Potent Cytotoxic Brefeldin A from a Fungal Library of the Medicinal Mangrove Acanthus ilicifolius. 62
35877725 2022
37
Molecular characterisation and function analysis of NOD1 gene from Yangzhou goose (Anser cygnoides domesticus). 62
34558366 2022
38
Molecular determinants of αVβ5 localization in flat clathrin lattices - role of αVβ5 in cell adhesion and proliferation. 62
35532004 2022
39
Site-Specific 19F NMR Method for Detecting Arf6 GEF Activity. 62
35658403 2022
40
Protocol for fluorescence-activated cell sorting of human EpCAM+ lung cancer cells for gene expression analysis of Rac guanine-nucleotide exchange factors. 62
35542175 2022
41
EhRho6-mediated actin degradation in Entamoeba histolytica is associated with compromised pathogenicity. 62
35324049 2022
42
The RAL Enigma: Distinct Roles of RALA and RALB in Cancer. 62
35626682 2022
43
Conformations and binding pockets of HRas and its guanine nucleotide exchange factors complexes in the guanosine triphosphate exchange process. 62
35324017 2022
44
Rac1 mediates cadherin-11 induced cellular pathogenic processes in aortic valve calcification. 62
35074515 2022
45
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. 62
35174982 2022
46
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. 62
35627139 2022
47
Tandem C2 domains mediate dynamic organelle targeting of a DOCK family guanine nucleotide exchange factor. 62
35194638 2022
48
Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study. 62
35231857 2022
49
Genetic Epilepsy Syndromes. 62
35393962 2022
50
ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak. 62
35294066 2022
Sources

Variations for Generalized Epilepsy with Febrile Seizures Plus

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

5 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STX1B NM_052874.5(STX1B):c.286G>T (p.Glu96Ter) SNV Pathogenic
 1326264 GRCh37: 16:31008891-31008891
GRCh38: 16:30997570-30997570
2 SCN2A NM_001040142.2(SCN2A):c.1528_1533del (p.Gln510_Lys511del) DEL Pathogenic
 1342700 GRCh37: 2:166172120-166172125
GRCh38: 2:165315610-165315615
3 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Pathogenic
 9252 rs104894718 GRCh37: 19:35524558-35524558
GRCh38: 19:35033654-35033654
4 SLC32A1 NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) SNV Likely Pathogenic
 918044 rs2084286911 GRCh37: 20:37357095-37357095
GRCh38: 20:38728452-38728452
5 SLC32A1 NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) SNV Likely Pathogenic
 918042 rs2084286998 GRCh37: 20:37357107-37357107
GRCh38: 20:38728464-38728464
6 SLC32A1 NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) SNV Likely Pathogenic
 918043 rs2084284179 GRCh37: 20:37356693-37356693
GRCh38: 20:38728050-38728050
7 SLC32A1 NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) SNV Likely Pathogenic
 918046 rs2084286884 GRCh37: 20:37357086-37357086
GRCh38: 20:38728443-38728443
8 SLC32A1 NM_080552.3(SLC32A1):c.1393G>A (p.Gly465Ser) SNV Uncertain Significance
 918047 rs2084286949 GRCh37: 20:37357097-37357097
GRCh38: 20:38728454-38728454
9 SLC32A1 NM_080552.3(SLC32A1):c.1333C>T (p.Leu445Phe) SNV Uncertain Significance
 918048 rs1276643179 GRCh37: 20:37357037-37357037
GRCh38: 20:38728394-38728394
10 SLC32A1 NM_080552.3(SLC32A1):c.127G>T (p.Gly43Cys) SNV Uncertain Significance
 918049 rs2084268435 GRCh37: 20:37353494-37353494
GRCh38: 20:38724851-38724851
11 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala) SNV Uncertain Significance
 1048116 rs1697749010 GRCh37: 2:167142983-167142983
GRCh38: 2:166286473-166286473
12 SLC32A1 NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala) SNV Uncertain Significance
 918045 rs2084283325 GRCh37: 20:37356492-37356492
GRCh38: 20:38727849-38727849
13 SCN1A NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro) SNV Uncertain Significance
 1693292 GRCh37: 2:166894596-166894596
GRCh38: 2:166038086-166038086
14 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insT INSERT Uncertain Significance
 331962 rs767624579 GRCh37: 2:167060861-167060862
GRCh38: 2:166204351-166204352
15 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*165_*167dup DUP Uncertain Significance
 331956 rs886055049 GRCh37: 2:167055014-167055015
GRCh38: 2:166198504-166198505
16 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) SNV Uncertain Significance
 289499 rs750839038 GRCh37: 2:167108283-167108283
GRCh38: 2:166251773-166251773
17 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) MICROSAT Uncertain Significance
 331964 rs886055050 GRCh37: 2:167060934-167060936
GRCh38: 2:166204424-166204426
18 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*2744del DEL Uncertain Significance
 331904 rs763459885 GRCh37: 2:167052438-167052438
GRCh38: 2:166195928-166195928
19 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) SNV Uncertain Significance
 331969 rs370455223 GRCh37: 2:167099142-167099142
GRCh38: 2:166242632-166242632
20 GABRG2 NM_198904.4(GABRG2):c.-4dup DUP Uncertain Significance
 352636 rs771282908 GRCh37: 5:161494990-161494991
GRCh38: 5:162067984-162067985
21 GABRG2 NM_198904.4(GABRG2):c.-4del DEL Uncertain Significance
 352637 rs771282908 GRCh37: 5:161494991-161494991
GRCh38: 5:162067985-162067985
22 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*491del DEL Uncertain Significance
 331947 rs886055047 GRCh37: 2:167054691-167054691
GRCh38: 2:166198181-166198181
23 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*1960_*1962dup DUP Likely Benign
 331924 rs202073550 GRCh37: 2:167053219-167053220
GRCh38: 2:166196709-166196710
24 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1975-3del DEL Likely Benign
 194207 rs35888674 GRCh37: 2:167138321-167138321
GRCh38: 2:166281811-166281811
25 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*1605_*1606del DEL Likely Benign
 331929 rs200091138 GRCh37: 2:167053576-167053577
GRCh38: 2:166197066-166197067
26 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.2875-5del DEL Likely Benign
 331976 rs774840081 GRCh37: 2:167129390-167129390
GRCh38: 2:166272880-166272880
27 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*2616_*2626del DEL Benign
 331908 rs145255931 GRCh37: 2:167052556-167052566
GRCh38: 2:166196046-166196056
28 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1975-12dup DUP Benign
 167661 rs35888674 GRCh37: 2:167138320-167138321
GRCh38: 2:166281810-166281811
29 GABRG2 NM_198904.4(GABRG2):c.*2120_*2121del DEL Benign
 352671 rs34705786 GRCh37: 5:161582494-161582495
GRCh38: 5:162155488-162155489
30 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.*798dup DUP Benign
 331942 rs564394161 GRCh37: 2:167054383-167054384
GRCh38: 2:166197873-166197874
31 SCN1A NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) SNV Benign
 36752 rs6432860 GRCh37: 2:166897864-166897864
GRCh38: 2:166041354-166041354
32 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) SNV Benign
 36753 rs2298771 GRCh37: 2:166892788-166892788
GRCh38: 2:166036278-166036278
33 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) SNV Not Provided
 433099 rs201338643 GRCh37: 2:167141091-167141091
GRCh38: 2:166284581-166284581
34 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) SNV Not Provided
 421969 rs202152511 GRCh37: 2:167133648-167133648
GRCh38: 2:166277138-166277138
35 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) SNV Not Provided
 856918 rs1413202256 GRCh37: 2:167085279-167085279
GRCh38: 2:166228769-166228769
36 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly) SNV Not Provided
 1053830 GRCh37: 2:167128928-167128928
GRCh38: 2:166272418-166272418
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:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Nervous system development 66
Show member pathways
 13.57 STX1B SCN9A SCN8A SCN3A SCN2A SCN1B
2
Transmission across Chemical Synapses 66
Show member pathways
 13.03 GABRA1 GABRB3 GABRG2 HCN1 KCNQ2 KCNQ3
3
Sweet Taste Signaling 64
Show member pathways
 12.87 HCN1 GABRG2 GABRD GABRB3 GABRA1
4
Cardiac conduction 66
Show member pathways
 12.74 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
5
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.52 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A
6
G-Beta Gamma Signaling 64
Show member pathways
 12.49 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
7
Neuroscience 3
12.41 SCN9A SCN8A SCN2A SCN1B SCN1A KCNQ2
8
NF-kappaB Pathway 70
Show member pathways
 12.28 GABRG2 GABRD GABRB3 GABRA1
9
L1CAM interactions 66
Show member pathways
 12.03 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
10
Sensory perception of taste 66
Show member pathways
 11.99 SCN9A SCN3A SCN2A SCN1B
11
Potassium Channels 66
Show member pathways
 11.97 KCNQ3 KCNQ2 HCN1
12
Fragile X syndrome 74
Show member pathways
 11.95 HCN1 GABRG2 GABRD GABRA1
13
Signaling by ERBB4 66
Show member pathways
 11.88 GABRG2 GABRB3 GABRA1
14
Rett syndrome causing genes 74
11.35 SCN8A SCN2A SCN1A GABRD
15
mBDNF and proBDNF regulation of GABA neurotransmission 74
11.2 GABRG2 GABRD GABRB3 GABRA1
16
Dravet syndrome 74
11.03 SCN3A SCN1B SCN1A
17
Phase 0 - rapid depolarisation 66
10.96 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
18
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.91 SLC32A1 GABRG2 GABRA1
19
Synaptic Neurotransmission: GABAergic Inhibition 65
10.79 GABRA1 GABRB3 GABRD GABRG2
20
Interaction between L1 and Ankyrins 66
10.72 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
Sources

GO Terms for Generalized Epilepsy with Febrile Seizures Plus

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 11.12 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 HCN1
2 plasma membrane GO:0005887 11.12 GABRA1 GABRB3 GABRD GABRG2 HCN1 KCNQ2
3 membrane GO:0016020 10.55 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 HCN1
4 membrane GO:0016021 10.55 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 HCN1
5 synapse GO:0045202 10.33 ADGRV1 GABRA1 GABRB3 GABRD GABRG2 KCNQ2
6 neuron projection GO:0043005 10.26 GABRA1 GABRB3 GABRD GABRG2 SCN9A SLC32A1
7 axon GO:0030424 10.13 GABRD GABRG2 HCN1 SCN1A SCN1B SCN2A
8 cytoplasmic vesicle membrane GO:0030659 10.1 GABRA1 GABRB3 GABRG2 SLC32A1
9 postsynaptic membrane GO:0045211 10.1 HCN1 GABRG2 GABRD GABRB3 GABRA1
10 GABA-ergic synapse GO:0098982 10.08 SLC32A1 GABRG2 GABRD GABRA1
11 chloride channel complex GO:0034707 10.03 GABRG2 GABRD GABRB3 GABRA1
12 intercalated disc GO:0014704 10.02 SCN2A SCN1B SCN1A
13 T-tubule GO:0030315 10.01 SCN2A SCN1B SCN1A
14 axon initial segment GO:0043194 9.97 KCNQ2 KCNQ3 SCN1A SCN8A
15 GABA-A receptor complex GO:1902711 9.92 GABRG2 GABRD GABRB3 GABRA1
16 voltage-gated sodium channel complex GO:0001518 9.73 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
17 sodium channel complex GO:0034706 9.71 SCN2A SCN1B SCN1A
18 GABA receptor complex GO:1902710 9.69 GABRG2 GABRA1
19 node of Ranvier GO:0033268 9.4 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.3 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNQ3
2 sodium ion transmembrane transport GO:0035725 10.25 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
3 regulation of membrane potential GO:0042391 10.2 SCN1A HCN1 GABRG2 GABRD GABRB3 GABRA1
4 chloride transmembrane transport GO:1902476 10.19 GABRG2 GABRD GABRB3 GABRA1
5 nervous system process GO:0050877 10.18 ADGRV1 GABRA1 GABRB3 GABRD GABRG2
6 excitatory postsynaptic potential GO:0060079 10.17 GABRA1 GABRB3 GABRD GABRG2
7 sodium ion transport GO:0006814 10.15 HCN1 SCN1A SCN1B SCN2A SCN3A SCN8A
8 transmembrane transport GO:0055085 10.11 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
9 regulation of monoatomic ion transmembrane transport GO:0034765 10.06 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
10 gamma-aminobutyric acid signaling pathway GO:0007214 10.05 GABRG2 GABRB3 GABRA1
11 synaptic transmission, GABAergic GO:0051932 10.03 GABRG2 GABRB3 GABRA1
12 membrane depolarization during action potential GO:0086010 10.02 SCN9A SCN8A SCN3A SCN2A SCN1A
13 inhibitory synapse assembly GO:1904862 10.01 GABRG2 GABRB3 GABRA1
14 neuronal action potential GO:0019228 10 HCN1 SCN1A SCN2A SCN3A SCN8A SCN9A
15 regulation of postsynaptic membrane potential GO:0060078 9.98 GABRA1 GABRB3 GABRD GABRG2 HCN1
16 neuronal action potential propagation GO:0019227 9.9 SCN1B SCN1A
17 cellular response to histamine GO:0071420 9.89 GABRG2 GABRB3
18 monoatomic cation transmembrane transport GO:0098655 9.89 SCN9A SCN8A SCN3A SCN2A SCN1A
19 chloride transport GO:0006821 9.85 GABRG2 GABRD GABRB3 GABRA1
20 monoatomic ion transport GO:0006811 9.83 GABRA1 GABRB3 GABRD GABRG2 HCN1 KCNQ2
21 monoatomic ion transmembrane transport GO:0034220 9.53 GABRA1 GABRB3 GABRD GABRG2 KCNQ2 KCNQ3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 10.11 GABRA1 GABRB3 GABRD GABRG2
2 chloride channel activity GO:0005254 10.1 GABRG2 GABRD GABRB3 GABRA1
3 voltage-gated monoatomic ion channel activity GO:0005244 10.1 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
4 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 10.08 GABRG2 GABRD GABRB3 GABRA1
5 voltage-gated potassium channel activity GO:0005249 10.03 KCNQ3 KCNQ2 HCN1
6 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 10.03 GABRG2 GABRD GABRB3 GABRA1
7 voltage-gated sodium channel activity GO:0005248 10 HCN1 SCN1A SCN1B SCN2A SCN3A SCN8A
8 GABA-A receptor activity GO:0004890 9.97 GABRG2 GABRD GABRB3 GABRA1
9 GABA-gated chloride ion channel activity GO:0022851 9.93 GABRG2 GABRB3 GABRA1
10 transmembrane signaling receptor activity GO:0004888 9.92 GABRG2 GABRD GABRB3 GABRA1 ADGRV1
11 benzodiazepine receptor activity GO:0008503 9.88 GABRG2 GABRA1
12 inhibitory extracellular ligand-gated monoatomic ion channel activity GO:0005237 9.87 GABRG2 GABRA1
13 potassium channel activity GO:0005267 9.85 KCNQ3 KCNQ2 HCN1
14 monoatomic cation channel activity GO:0005261 9.72 SCN9A SCN8A SCN3A SCN2A SCN1A
15 GABA receptor activity GO:0016917 9.71 GABRG2 GABRA1
16 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.71 GABRA1 GABRB3 GABRD GABRG2
17 sodium channel activity GO:0005272 9.5 SCN9A SCN8A SCN3A SCN2A SCN1B SCN1A
18 monoatomic ion channel activity GO:0005216 9.4 SCN9A SCN8A SCN3A SCN2A SCN1A KCNQ3
Sources

Sources for Generalized Epilepsy with Febrile Seizures Plus

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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