GEFS+
MCID: EPL041
MIFTS: 42

Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 (GEFS+) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...

MalaCards: Epilepsy, Generalized, with Febrile Seizures Plus, Type 3, also known as generalized epilepsy with febrile seizures-plus, is related to febrile seizures and epilepsy syndrome. An important gene associated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2), and among its related pathways are GABA signaling in brain and Apoptosis Pathway. The compounds (+)-bicuculline and (-)-bicuculline methochloride have been mentioned in the context of this disorder. Related mouse phenotypes are normal and behavior/neurological.

Description from OMIM:47 609800, 611277, 612279, 613060, 613828 613863, 604233, 604403 more

Aliases & Classifications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
generalized epilepsy with febrile seizures-plus:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

epilepsy, generalized, with febrile seizures plus, type 3 47
generalized epilepsy with febrile seizures-plus 49 47
gefs+ 49


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ICD10 via Orphanet26 G40.3

Related Diseases for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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17GeneCards, 18GeneDecks
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Diseases in the Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 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 6
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1

Diseases related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures30.8GABRG2, SCN1B, SCN1A
2epilepsy syndrome30.1SCN1A, SCN1B, GABRG2
3scn1a-related seizure disorders30.1SCN1A
4dravet syndrome29.8GABRG2, GABRD, SCN1B, SCN1A
5scn1b-related generalized epilepsy with febrile seizures plus10.7
6gabrg2-related generalized epilepsy with febrile seizures plus10.7
7scn9a-related generalized epilepsy with febrile seizures plus10.7
8scn1a- related generalized epilepsy with febrile seizures plus10.7
9gabrd-related generalized epilepsy with febrile seizures plus10.6
10epilepsy, generalized, with febrile seizures plus, type 110.5
11generalized epilepsy with febrile seizures plus10.5
12neuronitis10.4
13breast cancer10.3
14leukemia10.2
15familial febrile seizures 3b10.2
16epilepsy, generalized, with febrile seizures plus, type 210.2
17colon cancer10.1
18epilepsy, generalized, with febrile seizures plus, type 510.1
19focal epilepsy10.1SCN1B
20juvenile myoclonic epilepsy10.0GABRG2, SCN1A
21idiopathic generalized epilepsy10.0SCN1A, GABRG2
22convulsions benign familial neonatal dominant form10.0GABRG2, SCN1B, SCN1A
23frontal lobe epilepsy10.0SCN1A, SCN1B, GABRG2
24early myoclonic encephalopathy10.0GABRG2, SCN1B, SCN1A
25temporal lobe epilepsy10.0
26bipolar disorder10.0
27melanoma10.0
28myeloid leukemia10.0
29neuroblastoma10.0
30pancreatitis10.0
31myoclonic astatic epilepsy10.0
32endotheliitis10.0
33myoclonic epilepsy of infancy10.0

Graphical network of the top 20 diseases related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:



Diseases related to epilepsy, generalized, with febrile seizures plus, type 3

Symptoms for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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47OMIM
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Symptoms by clinical synopsis from OMIM:

609800

Clinical features from OMIM:

609800,611277,612279,613060,613828,613863,604233,604403

Drugs & Therapeutics for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Search NIH Clinical Center for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Genetic Tests for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Anatomical Context for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Animal Models for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.3SCN1A, SCN1B, SCN9A, GABRG2
2MP:00053867.9GABRG2, GABRD, SCN9A, SCN1B, SCN1A
3MP:00107687.9GABRG2, GABRD, SCN9A, SCN1B, SCN1A
4MP:00036317.8SCN1A, SCN1B, SCN9A, GABRD, GABRG2

Publications for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

64
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070
2GABRG2p.Lys328MetVAR_014266
3GABRG2p.Arg177GlyVAR_038602

Clinvar genetic disease variations for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1GABRG2NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met)single nucleotide variantPathogenicrs121909672GRCh37Chr 5, 161576174: 161576174
2GABRG2NM_198903.2(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
3GABRG2NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs121909674GRCh37Chr 5, 161580138: 161580138
4GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
5GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845
6GABRG2NM_198903.2(GABRG2): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs397514737GRCh37Chr 5, 161576159: 161576159
7SCN1BNM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)single nucleotide variantPathogenicrs104894718GRCh37Chr 19, 35524558: 35524558

Expression for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

Search GEO for disease gene expression data for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3.

Pathways for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Sources:
50PathCards, 12EMD Millipore, 54R&D Systems, 61Tocris Bioscience, 30KEGG, 53QIAGEN, 55Reactome
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Pathways related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4GABRG2, GABRD
2
Show member pathways
9.4GABRG2, GABRD
39.4GABRG2, GABRD
4
Show member pathways
9.0SCN1A, SCN1B, SCN9A
5
Show member pathways
9.0SCN9A, SCN1B, SCN1A
6
Show member pathways
9.0SCN1B, SCN1A, SCN9A
7
Show member pathways
8.9GABRD, GABRG2, SCN1A
8
Show member pathways
8.6SCN2A, SCN1A, SCN9A
98.6SCN1A, SCN2A, SCN9A
10
Show member pathways
8.2SCN2A, SCN9A, SCN1B, SCN1A
118.2SCN2A, SCN9A, SCN1B, SCN1A

Compounds for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB
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Compounds related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1(+)-bicuculline619.8GABRD, GABRG2
2(-)-bicuculline methochloride619.8GABRD, GABRG2
3(-)-bicuculline methiodide619.8GABRD, GABRG2
4sr 95531 hydrobromide619.8GABRD, GABRG2
5estazolam45 1110.8GABRD, GABRG2
6quazepam45 1110.8GABRG2, GABRD
7bromazepam45 1110.8GABRD, GABRG2
8lorazepam45 51 1111.8GABRG2, GABRD
9flurazepam45 1110.7GABRG2, GABRD
10oxazepam51 1110.7GABRD, GABRG2
11chlordiazepoxide45 1110.7GABRD, GABRG2
12clonazepam45 1110.7GABRD, GABRG2
13tbps45 2910.7GABRD, GABRG2
14muscimol45 61 2911.7GABRG2, GABRD
15triazolam45 1110.7GABRG2, GABRD
16clobazam45 51 1111.6GABRD, GABRG2
17alprazolam45 1110.6GABRD, GABRG2
18Gamma-Aminobutyric acid249.6GABRG2, GABRD
19bc-iii299.5SCN1A, SCN2A
20atx-ii299.5SCN1A, SCN2A
21midazolam45 51 1111.5GABRG2, GABRD
22aft-ii299.5SCN1A, SCN2A
23lamotrigine45 51 1111.5SCN2A, SCN1A
24topiramate45 51 24 1112.5SCN2A, SCN1A
25diazepam45 29 51 1112.4GABRG2, GABRD
26chlorine45 2410.4GABRG2, GABRD
27nitrazepam45 1110.3SCN1A, GABRD, GABRG2
28potassium45 24 1111.2SCN1A, SCN1B, GABRG2
29phenytoin45 51 29 1112.0SCN1A, SCN2A
30saxitoxin299.0SCN2A, SCN9A, SCN1A
31batrachotoxin299.0SCN2A, SCN9A, SCN1A
32carbamazepine45 51 1110.8SCN2A, SCN1A
33phrixotoxin 3618.6SCN2A, SCN1A, SCN1B, SCN9A
34qx 314 chloride618.6SCN1A, SCN1B, SCN9A, SCN2A
35tetrodotoxin citrate618.6SCN1A, SCN1B, SCN9A, SCN2A
36veratridine45 61 2910.6SCN1A, SCN1B, SCN9A, SCN2A
37zonisamide45 51 1110.6SCN1A, SCN1B, SCN9A, SCN2A
38tetrodotoxin45 61 2910.6SCN1A, SCN1B, SCN9A, SCN2A
39sodium45 249.1SCN1A, SCN1B, SCN9A, SCN2A, GABRG2

GO Terms for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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16Gene Ontology
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Cellular components related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347079.4GABRG2, GABRD
2postsynaptic membraneGO:0452119.4GABRG2, GABRD
3axonGO:0304249.1SCN2A, GABRG2
4node of RanvierGO:0332688.8SCN1A, SCN1B, SCN2A
5T-tubuleGO:0303158.8SCN1A, SCN1B, SCN2A
6intercalated discGO:0147048.7SCN1A, SCN1B, SCN2A
7voltage-gated sodium channel complexGO:0015188.3SCN2A, SCN9A, SCN1B, SCN1A
8integral component of plasma membraneGO:0058878.3GABRG2, GABRD, SCN2A

Biological processes related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1post-embryonic developmentGO:0097919.5GABRG2, SCN9A
2neuronal action potential propagationGO:0192279.5SCN1A, SCN1B
3neuronal action potentialGO:0192289.3SCN9A, SCN1A
4synaptic transmissionGO:0072688.7GABRG2, GABRD, SCN1B
5sodium ion transportGO:0068148.7SCN2A, SCN9A, SCN1A
6sodium ion transmembrane transportGO:0357258.3SCN2A, SCN9A, SCN1B, SCN1A

Molecular functions related to Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.4GABRG2, GABRD
2GABA-A receptor activityGO:0048909.3GABRD, GABRG2
3extracellular ligand-gated ion channel activityGO:0052309.1GABRG2, GABRD
4voltage-gated sodium channel activityGO:0052488.2SCN2A, SCN9A, SCN1B, SCN1A

Products for genes affiliated with Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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Sources for Epilepsy, Generalized, with Febrile Seizures Plus, Type 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet