GEFS+
MCID: GNT046
MIFTS: 29

Genetic Epilepsy with Febrile Seizures Plus (GEFS+)

Aliases & Classifications for Genetic Epilepsy with Febrile Seizures Plus

MalaCards integrated aliases for Genetic Epilepsy with Febrile Seizures Plus:

Name: Genetic Epilepsy with Febrile Seizures Plus 43
Generalized Epilepsy with Febrile Seizures Plus 43 70
Gefs+ 43

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UMLS 70 C3502809

Summaries for Genetic Epilepsy with Febrile Seizures Plus

MedlinePlus Genetics : 43 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 : Genetic Epilepsy with Febrile Seizures Plus, also known as generalized epilepsy with febrile seizures plus, 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 Genetic Epilepsy with Febrile Seizures Plus is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and G-Beta Gamma Signaling. The drugs Cetuximab and Gefitinib have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and temporal lobe.

Related Diseases for Genetic Epilepsy with Febrile Seizures Plus

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 33.2 SCN1A LOC102724058
2 generalized epilepsy with febrile seizures plus, type 2 32.5 SCN9A SCN1A LOC102724058
3 generalized epilepsy with febrile seizures plus, type 7 32.4 SCN9A SCN1A LOC102724058
4 generalized epilepsy with febrile seizures plus 31.3 SCN9A SCN2A SCN1A LOC102724058
5 seizure disorder 30.9 SCN2A SCN1A LOC102724058
6 myoclonic epilepsy of infancy 30.8 SCN1A LOC102724058
7 encephalopathy 30.6 SCN2A SCN1A
8 scn1a seizure disorders 30.5 SCN1A LOC102724058
9 febrile seizures, familial, 2 30.4 SCN2A SCN1A
10 epilepsy with generalized tonic-clonic seizures 30.4 SCN2A SCN1A
11 focal epilepsy 30.3 SCN2A SCN1A LOC102724058
12 epilepsy 30.2 SCN9A SCN2A SCN1A LOC102724058
13 febrile seizures 30.2 SCN9A SCN2A SCN1A LOC102724058
14 developmental and epileptic encephalopathy 30.2 SCN1A LOC102724058 FGF13
15 epilepsy, myoclonic juvenile 30.1 SCN2A SCN1A
16 childhood absence epilepsy 30.0 SCN2A SCN1A
17 ohtahara syndrome 30.0 SCN2A SCN1A LOC102724058
18 dravet syndrome 29.9 SCN9A SCN2A SCN1A LOC102724058
19 brugada syndrome 29.9 SCN9A SCN2A SCN1A
20 febrile seizures, familial, 1 29.7 SCN9A SCN2A SCN1A
21 benign familial neonatal epilepsy 29.7 SCN2A SCN1A
22 early myoclonic encephalopathy 29.7 SCN9A SCN2A SCN1A
23 epilepsy, idiopathic generalized 29.7 SCN9A SCN2A SCN1A
24 migraine with or without aura 1 29.7 SCN9A SCN2A SCN1A
25 early infantile epileptic encephalopathy 29.6 SCN9A SCN2A SCN1A LOC102724058
26 alacrima, achalasia, and mental retardation syndrome 29.2 SCN2A SCN1A LOC102724058
27 familial febrile seizures 29.2 SCN9A SCN2A SCN1A
28 lennox-gastaut syndrome 29.2 SCN9A SCN2A SCN1A
29 generalized epilepsy with febrile seizures plus, type 9 12.1
30 generalized epilepsy with febrile seizures plus, type 10 12.1
31 generalized epilepsy with febrile seizures plus, type 8 12.0
32 generalized epilepsy with febrile seizures plus, type 6 12.0
33 generalized epilepsy with febrile seizures plus, type 4 12.0
34 epilepsy, idiopathic generalized 10 12.0
35 febrile seizures, familial, 8 11.9
36 scn1a-related seizure disorders 11.4
37 epilepsy with myoclonic-atonic seizures 10.5
38 brugada syndrome 5 10.4
39 progressive familial heart block 10.4
40 autism 10.2
41 myoclonic-atonic epilepsy 10.2
42 autism spectrum disorder 10.2
43 status epilepticus 10.2
44 benign childhood occipital epilepsy, panayiotopoulos type 10.2
45 episodic kinesigenic dyskinesia 1 10.2
46 seizures, benign familial infantile, 3 10.2
47 temporal lobe epilepsy 10.2
48 childhood-onset epilepsy syndrome 10.2
49 developmental and epileptic encephalopathy 13 10.1 SCN2A SCN1A
50 febrile seizures, familial, 5 10.1 SCN2A SCN1A

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



Diseases related to Genetic Epilepsy with Febrile Seizures Plus

Symptoms & Phenotypes for Genetic Epilepsy with Febrile Seizures Plus

Drugs & Therapeutics for Genetic Epilepsy with Febrile Seizures Plus

Drugs for Genetic Epilepsy with Febrile Seizures Plus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
2
Gefitinib Approved, Investigational Phase 1 184475-35-2 123631
3 Pharmaceutical Solutions Phase 1
4 Antineoplastic Agents, Immunological Phase 1
5 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study of Cetuximab in Combination With Gefitinib in Patients With Advanced/Metastatic Non-Small Cell Lung Cancer Completed NCT00162318 Phase 1 Cetuximab + Gefitinib
2 ADRB3, ROCK2 and GEF Levels in Overactive Bladder Patients Completed NCT04626960

Search NIH Clinical Center for Genetic Epilepsy with Febrile Seizures Plus

Genetic Tests for Genetic Epilepsy with Febrile Seizures Plus

Anatomical Context for Genetic Epilepsy with Febrile Seizures Plus

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

40
Brain, Skeletal Muscle, Temporal Lobe

Publications for Genetic Epilepsy with Febrile Seizures Plus

Articles related to Genetic Epilepsy with Febrile Seizures Plus:

(show top 50) (show all 293)
# Title Authors PMID Year
1
Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy. 61
33189882 2021
2
H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. 61
32990398 2020
3
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
4
Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family. 61
32062735 2020
5
Copy number variation in genetic epilepsy with febrile seizures plus. 61
32595013 2020
6
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
7
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. 61
31782251 2020
8
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. 61
31765958 2020
9
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype. 61
33108073 2020
10
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models. 61
31904127 2019
11
SCN1A-related phenotypes: Epilepsy and beyond. 61
31904117 2019
12
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. 61
31465153 2019
13
Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy. 61
31394368 2019
14
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 61
30680721 2019
15
Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy. 61
31257984 2019
16
G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters. 61
30834459 2019
17
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. 61
30977726 2019
18
[A novel inherited STX1B mutation associated with generalized epilepsy with febrile seizures plus: a family analysis and literature review]. 61
30818898 2019
19
Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants. 61
30660056 2019
20
Outcomes and comorbidities of SCN1A-related seizure disorders. 61
30527252 2019
21
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 61
30351409 2018
22
Genetic literacy series: genetic epilepsy with febrile seizures plus. 61
30078767 2018
23
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. 61
29635106 2018
24
The genetics and molecular biology of fever-associated seizures or epilepsy. 61
29661262 2018
25
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus? 61
29454195 2018
26
[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus]. 61
29429462 2018
27
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). 61
28951233 2017
28
The association of Generalized Epilepsy with Febrile Seizures plus (GEFS+) with FEB1 gene: A new insight to the etiology of GEFS+: PS232. 61
32258734 2017
29
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 61
28794249 2017
30
Genetic epilepsy with febrile seizures plus: Refining the spectrum. 61
28842445 2017
31
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice. 61
28586508 2017
32
Phenotypic analysis of 303 multiplex families with common epilepsies. 61
28899008 2017
33
Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus. 61
28704742 2017
34
Early-life febrile seizures worsen adult phenotypes in Scn1a mutants. 61
28373025 2017
35
A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy. 61
28262406 2017
36
Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation. 61
27889818 2017
37
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood. 61
28192756 2017
38
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. 61
28442529 2017
39
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. 61
28202706 2017
40
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. 61
28084635 2017
41
Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness. 61
28070485 2017
42
Large-scale structural alteration of brain in epileptic children with SCN1A mutation. 61
28664031 2017
43
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? 61
27810516 2016
44
FHF1 (FGF12) epileptic encephalopathy. 61
27830185 2016
45
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 61
27521439 2016
46
Lithium-Responsive Seizure-Like Hyperexcitability Is Caused by a Mutation in the Drosophila Voltage-Gated Sodium Channel Gene paralytic. 61
27844061 2016
47
Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. 61
27367160 2016
48
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. 61
27045673 2016
49
Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. 61
27131289 2016
50
β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 61
27277800 2016

Variations for Genetic Epilepsy with Febrile Seizures Plus

Expression for Genetic Epilepsy with Febrile Seizures Plus

Search GEO for disease gene expression data for Genetic Epilepsy with Febrile Seizures Plus.

Pathways for Genetic Epilepsy with Febrile Seizures Plus

Pathways related to Genetic Epilepsy with Febrile Seizures Plus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 SCN9A SCN2A SCN1A FGF13
2
Show member pathways
12.48 SCN9A SCN2A SCN1A
3
Show member pathways
12.18 SCN9A SCN2A SCN1A FGF13
4
Show member pathways
12.14 SCN9A SCN2A SCN1A
5 12.03 SCN9A SCN2A SCN1A
6
Show member pathways
11.56 SCN9A SCN2A
7
Show member pathways
11.53 SCN9A SCN2A SCN1A
8
Show member pathways
10.8 SCN9A SCN2A SCN1A FGF13
9 10.61 SCN9A SCN2A SCN1A

GO Terms for Genetic Epilepsy with Febrile Seizures Plus

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.46 SCN9A SCN2A SCN1A FGF13
2 T-tubule GO:0030315 9.37 SCN2A SCN1A
3 node of Ranvier GO:0033268 9.32 SCN2A SCN1A
4 sodium channel complex GO:0034706 9.26 SCN2A SCN1A
5 intercalated disc GO:0014704 9.13 SCN2A SCN1A FGF13
6 voltage-gated sodium channel complex GO:0001518 8.8 SCN9A SCN2A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.65 SCN9A SCN2A SCN1A
2 transmembrane transport GO:0055085 9.63 SCN9A SCN2A SCN1A
3 ion transmembrane transport GO:0034220 9.58 SCN9A SCN2A SCN1A
4 regulation of ion transmembrane transport GO:0034765 9.54 SCN9A SCN2A SCN1A
5 sodium ion transmembrane transport GO:0035725 9.5 SCN9A SCN2A SCN1A
6 memory GO:0007613 9.43 SCN2A FGF13
7 cation transmembrane transport GO:0098655 9.43 SCN9A SCN2A SCN1A
8 neuronal action potential GO:0019228 9.33 SCN9A SCN2A SCN1A
9 sodium ion transport GO:0006814 9.26 SCN9A SCN2A SCN1A FGF13
10 membrane depolarization during action potential GO:0086010 8.8 SCN9A SCN2A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN9A SCN2A SCN1A
2 voltage-gated ion channel activity GO:0005244 9.43 SCN9A SCN2A SCN1A
3 cation channel activity GO:0005261 9.33 SCN9A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.13 SCN9A SCN2A SCN1A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN2A SCN1A

Sources for Genetic Epilepsy with Febrile Seizures Plus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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