GEFS+
MCID: GNR002
MIFTS: 48

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Generalized Epilepsy with Febrile Seizures Plus

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Disease Ontology:8 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 febrile seizures and epilepsy syndrome. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus is SCN1B (sodium channel, voltage-gated, type I, beta subunit), and among its related pathways are Nicotine addiction and GABA signaling in brain. The compounds (+)-bicuculline and (-)-bicuculline methochloride have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and behavior/neurological.

Descriptions from OMIM:46 611277, 609800, 604403, 612279, 613828 613863, 604233 more

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

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Generalized Epilepsy with Febrile Seizures Plus, Aliases & Descriptions:

Name: Generalized Epilepsy with Febrile Seizures Plus 8 22
 
Gefs+ 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 DOID:0060170

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

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Diseases in the Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 family:

generalized epilepsy with febrile seizures plus Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus Epilepsy, Generalized, with Febrile Seizures Plus, Type 5
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2
Epilepsy, Generalized, with Febrile Seizures Plus, Type 7 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3
Epilepsy, Generalized, with Febrile Seizures Plus, Type 6

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures31.7KCNQ2, SCN1A, SCN1B, GABRG2
2epilepsy syndrome31.3SCN2A
3dravet syndrome30.7GABRG2, GABRD, SCN1B, SCN1A, SCN8A
4scn1a-related seizure disorders30.6SCN1A
5neuronitis10.7
6epilepsy, generalized, with febrile seizures plus, type 110.7
7scn1b-related generalized epilepsy with febrile seizures plus10.6
8gabrg2-related generalized epilepsy with febrile seizures plus10.6
9gabrd-related generalized epilepsy with febrile seizures plus10.6
10scn9a-related generalized epilepsy with febrile seizures plus10.6
11scn1a- related generalized epilepsy with febrile seizures plus10.6
12familial febrile seizures 3b10.4
13epilepsy, generalized, with febrile seizures plus, type 510.4
14epilepsy, generalized, with febrile seizures plus, type 210.4
15epilepsy, generalized, with febrile seizures plus, type 310.4
16focal epilepsy10.4SCN1B
17epilepsy with generalized tonic-clonic seizures10.4SCN8A
18breast cancer10.3
19juvenile myoclonic epilepsy10.3GABRG2, SCN1A
20leukemia10.2
21pain disorder10.2SCN8A, SCN9A
22early myoclonic encephalopathy10.2GABRG2, SCN1B, SCN1A
23colon cancer10.1
24brugada syndrome10.1SCN8A, SCN1B
25bipolar disorder10.0
26temporal lobe epilepsy10.0
27melanoma10.0
28myeloid leukemia10.0
29neuroblastoma10.0
30pancreatitis10.0
31myoclonic astatic epilepsy10.0
32endotheliitis10.0
33myoclonic epilepsy of infancy10.0
34erythromelalgia10.0SCN8A, SCN9A, SCN7A
35prion disease10.0SCN1A, KCNQ2
36idiopathic generalized epilepsy9.9KCNQ2, SCN1A, GABRG2
37convulsions benign familial neonatal dominant form9.9KCNQ2, SCN1A, SCN1B, GABRG2
38frontal lobe epilepsy9.9GABRG2, SCN1B, SCN1A, KCNQ2
39long qt syndrome9.8SCN8A, KCNQ2

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 for Generalized Epilepsy with Febrile Seizures Plus

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Clinical features from OMIM:

611277,609800,604403,612279,613828,613863,604233

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus

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Drug clinical trials:

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Search NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus

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Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus:

id Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus22

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus

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Animal Models for Generalized Epilepsy with Febrile Seizures Plus or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8GABRG2, GABRD, SCN1A, SCN8A, KCNQ2
2MP:00053868.2GABRG2, KCNQ2, SCN8A, SCN1A, SCN1B, SCN9A
3MP:00036318.1KCNQ2, SCN8A, SCN1A, SCN1B, SCN9A, GABRD
4MP:00107687.9KCNQ2, SCN8A, SCN1A, SCN1B, SCN9A, GABRD

Publications for Generalized Epilepsy with Febrile Seizures Plus

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Articles related to Generalized Epilepsy with Febrile Seizures Plus:

(show all 50)
idTitleAuthorsYear
1
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+). (22944210)
2012
2
Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus]. (23158734)
2012
3
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. (21156207)
2011
4
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family. (21843600)
2011
5
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. (21488303)
2010
6
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. (20117752)
2010
7
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. (20600615)
2010
8
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. (20452746)
2010
9
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. (21488258)
2010
10
Febrile seizures, genetic (generalized) epilepsy with febrile seizures plus, and Dravet's syndrome. (20367785)
2010
11
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. (21488289)
2010
12
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus. (21488261)
2010
13
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? (19203856)
2009
14
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. (19339291)
2009
15
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. (19236456)
2009
16
Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. (19951487)
2009
17
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. (19261880)
2009
18
Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. (19065515)
2008
19
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. (18846618)
2008
20
Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. (18458705)
2008
21
A novel locus for generalized epilepsy with febrile seizures plus in French families. (18625863)
2008
22
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. (18846619)
2008
23
Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. (19171087)
2008
24
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. (18566737)
2008
25
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. (17629415)
2007
26
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). (15508917)
2005
27
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (16359471)
2005
28
Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. (16053169)
2005
29
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. (15715999)
2005
30
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. (14738422)
2004
31
Autism in several members of a family with generalized epilepsy with febrile seizures plus. (15605469)
2004
32
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. (14702334)
2004
33
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. (12535936)
2003
34
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). (12576172)
2003
35
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. (12919402)
2003
36
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. (12011299)
2002
37
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. (11748509)
2002
38
Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). (12060016)
2002
39
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. (12486163)
2002
40
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. (11313220)
2001
41
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. (11254445)
2001
42
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. (11567038)
2001
43
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. (11756608)
2001
44
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. (11254444)
2001
45
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. (11591834)
2001
46
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. (10677328)
2000
47
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. (9894880)
1999
48
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. (10521305)
1999
49
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. (10486327)
1999
50
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. (9126059)
1997

Variations for Generalized Epilepsy with Febrile Seizures Plus

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

6
id Gene Name Type Significance SNP ID Assembly Location
1SCN1BNM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)single nucleotide variantPathogenicrs104894718GRCh37Chr 19, 35524558: 35524558

Expression for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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Expression patterns in normal tissues for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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

Pathways for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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Compounds for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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Compounds related to Generalized Epilepsy with Febrile Seizures Plus according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1(+)-bicuculline6110.3GABRD, GABRG2
2(-)-bicuculline methochloride6110.3GABRD, GABRG2
3(-)-bicuculline methiodide6110.3GABRD, GABRG2
4sr 95531 hydrobromide6110.3GABRD, GABRG2
5estazolam44 1111.3GABRG2, GABRD
6quazepam44 1111.2GABRD, GABRG2
7bromazepam44 1111.2GABRG2, GABRD
8flurazepam44 1111.2GABRD, GABRG2
9lorazepam44 50 1112.2GABRD, GABRG2
10chlordiazepoxide44 1111.2GABRG2, GABRD
11oxazepam50 1111.2GABRG2, GABRD
12clonazepam44 1111.2GABRD, GABRG2
13tbps44 2811.1GABRD, GABRG2
14muscimol44 61 2812.1GABRG2, GABRD
15lamotrigine44 50 1112.1SCN1A, SCN2A
16triazolam44 1111.1GABRG2, GABRD
17clobazam44 50 1112.1GABRD, GABRG2
18topiramate44 50 24 1113.1SCN1A, SCN2A
19alprazolam44 1111.0GABRD, GABRG2
20Gamma-Aminobutyric acid2410.0GABRG2, GABRD
21nitrazepam44 1111.0GABRG2, GABRD, SCN1A
22midazolam44 50 1111.9GABRG2, GABRD
23diazepam44 28 50 1112.8GABRD, GABRG2
24bc-iii289.8SCN8A, SCN1A, SCN2A
25atx-ii289.8SCN8A, SCN1A, SCN2A
26aft-ii289.7SCN8A, SCN1A, SCN2A
27carbamazepine44 50 1111.7SCN2A, SCN1A
28zonisamide44 50 1111.6SCN1A, SCN1B, SCN9A, SCN2A
29saxitoxin289.5SCN8A, SCN1A, SCN9A, SCN2A
30batrachotoxin289.5SCN2A, SCN9A, SCN1A, SCN8A
31phenytoin44 50 28 1112.4SCN2A, SCN1A
32phrixotoxin 3619.2SCN2A, SCN8A, SCN1A, SCN1B, SCN9A
33qx 314 chloride619.2SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
34tetrodotoxin citrate619.2SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
35veratridine44 61 2811.2SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
36tetrodotoxin44 61 2811.2SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
37potassium44 24 1111.2KCNQ2, SCN8A, SCN1A, SCN1B, GABRG2
38sodium44 249.0KCNQ2, SCN8A, SCN1A, SCN1B, SCN9A, SCN2A

GO Terms for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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Cellular components related to Generalized Epilepsy with Febrile Seizures Plus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347079.9GABRG2, GABRD
2intercalated discGO:0147049.4SCN2A, SCN1B, SCN1A
3axon initial segmentGO:0431949.3KCNQ2, SCN8A, SCN1A
4T-tubuleGO:0303159.2SCN2A, SCN1B, SCN1A
5node of RanvierGO:0332688.7KCNQ2, SCN8A, SCN1A, SCN1B, SCN2A
6voltage-gated sodium channel complexGO:0015188.4SCN7A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1neuronal action potential propagationGO:01922710.1SCN1B, SCN1A
2neuronal action potentialGO:0192289.9SCN9A, SCN1A
3response to toxic substanceGO:0096369.8SCN9A, SCN8A
4myelinationGO:0425529.7SCN2A, SCN8A
5adult walking behaviorGO:0076289.7SCN8A, SCN1A
6synaptic transmissionGO:0072689.3KCNQ2, SCN1B, GABRD, GABRG2
7axon guidanceGO:0074119.1SCN1B, SCN8A, KCNQ2
8sodium ion transmembrane transportGO:0357259.0SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
9sodium ion transportGO:0068148.7SCN7A, SCN2A, SCN9A, SCN1A, SCN8A

Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.9GABRG2, GABRD
2GABA-A receptor activityGO:0048909.8GABRD, GABRG2
3extracellular ligand-gated ion channel activityGO:0052309.6GABRG2, GABRD
4voltage-gated sodium channel activityGO:0052488.3SCN7A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A

Products for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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3CDC
13ExPASy
14FMA
22GTR
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24HMDB
25ICD10
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28IUPHAR
29KEGG
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