MCID: GNR002
MIFTS: 42

Generalized Epilepsy with Febrile Seizures Plus malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Generalized Epilepsy with Febrile Seizures Plus

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Disease Ontology:9 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 generalized epilepsy with febrile seizures-plus, 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 GABA signaling in brain and Nicotine addiction. The compounds (-)-bicuculline methochloride and (-)-bicuculline methiodide have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and behavior/neurological.

Wikipedia:63 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

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Sources:
9Disease Ontology, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Generalized Epilepsy with Febrile Seizures Plus, Aliases & Descriptions:

Name: Generalized Epilepsy with Febrile Seizures Plus 9
Generalized Epilepsy with Febrile Seizures-Plus 47 22
 
Gefs+ 9 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
generalized epilepsy with febrile seizures-plus:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:0060170
Orphanet47 36387
ICD10 via Orphanet26 G40.3

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 9 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 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

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures31.9GABRG2, SCN1B, SCN1A, KCNQ2
2epilepsy syndrome31.4SCN2A
3epilepsy, generalized, with febrile seizures plus, type 531.1SCN1A, GABRG2
4dravet syndrome30.7SCN1B, SCN8A, GABRD, GABRG2, SCN1A
5scn1a-related seizure disorders30.6SCN1A
6neuronitis10.8
7epilepsy, generalized, with febrile seizures plus, type 210.7
8epilepsy, generalized, with febrile seizures plus, type 110.7
9generalized epilepsy with febrile seizures plus, type 910.7
10febrile seizures, familial, 3b10.7
11epilepsy, generalized, with febrile seizures plus, type 310.7
12scn1b-related generalized epilepsy with febrile seizures plus10.7
13gabrg2-related generalized epilepsy with febrile seizures plus10.7
14gabrd-related generalized epilepsy with febrile seizures plus10.7
15scn9a-related generalized epilepsy with febrile seizures plus10.7
16scn1a- related generalized epilepsy with febrile seizures plus10.7
17febrile seizures, familial, 110.4
18focal epilepsy10.4SCN1B
19epilepsy with generalized tonic-clonic seizures10.3SCN8A
20breast cancer10.3
21early myoclonic encephalopathy10.2SCN1A, GABRG2, SCN1B
22leukemia10.2
23pain disorder10.2SCN8A, SCN9A
24brugada syndrome10.1SCN1B, SCN8A
25colorectal cancer10.1
26alzheimer disease10.1
27obesity10.1
28brain disease10.0SCN1A, KCNQ2
29epilepsy, idiopathic generalized10.0KCNQ2, SCN1A, GABRG2
30erythromelalgia10.0SCN7A, SCN8A, SCN9A
31convulsions benign familial neonatal dominant form10.0KCNQ2, SCN1A, SCN1B, GABRG2
32frontal lobe epilepsy10.0KCNQ2, GABRG2, SCN1B, SCN1A
33muscular dystrophy, limb-girdle, type 2b10.0
34abdominal obesity-metabolic syndrome 310.0
35muscular dystrophy-dystroglycanopathy , type c, 510.0
36neuroblastoma10.0
37hiv-110.0
38multiple sclerosis, disease progression, modifier of10.0
39duchenne muscular dystrophy10.0
40acute myocardial infarction10.0
41bipolar disorder10.0
42dengue disease10.0
43dengue hemorrhagic fever10.0
44temporal lobe epilepsy10.0
45respiratory syncytial virus infectious disease10.0
46agammaglobulinemia10.0
47melanoma10.0
48myeloid leukemia10.0
49pancreatitis10.0
50myoclonic astatic epilepsy10.0

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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Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus

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Drug clinical trials:

Search ClinicalTrials for Generalized Epilepsy with Febrile Seizures Plus

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8KCNQ2, SCN8A, SCN1A, GABRD, GABRG2
2MP:00053867.9GABRD, GABRG2, SCN9A, SCN1B, SCN1A, SCN8A
3MP:00036317.8GABRD, STX1B, SCN9A, SCN1B, SCN1A, SCN8A
4MP:00107687.6GABRG2, GABRD, STX1B, SCN9A, SCN1B, SCN1A

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
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. (19409490)
2009
17
Clinical analysis and screening for SCN1A gene mutation in two pedigrees of generalized epilepsies with febrile seizures plus]. (19951487)
2009
18
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. (19261880)
2009
19
Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus]. (19065515)
2008
20
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. (18846618)
2008
21
Progress in molecular genetics of generalized epilepsy with febrile seizures plus]. (18458705)
2008
22
A novel locus for generalized epilepsy with febrile seizures plus in French families. (18625863)
2008
23
Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus. (18846619)
2008
24
Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]. (19171087)
2008
25
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. (18566737)
2008
26
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. (17629415)
2007
27
Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). (15508917)
2005
28
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (16359471)
2005
29
Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]. (16053169)
2005
30
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
31
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. (14738422)
2004
32
Autism in several members of a family with generalized epilepsy with febrile seizures plus. (15605469)
2004
33
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. (14702334)
2004
34
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. (12535936)
2003
35
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). (12576172)
2003
36
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. (12919402)
2003
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 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_006920.4(SCN1A): c.4910G> A (p.Arg1637His)single nucleotide variantPathogenicrs121918622GRCh37Chr 2, 166848842: 166848842
2SCN1ANM_006920.4(SCN1A): c.2591C> T (p.Thr864Met)single nucleotide variantPathogenicrs121918623GRCh37Chr 2, 166894608: 166894608
3SCN1ANM_006920.4(SCN1A): c.563A> T (p.Asp188Val)single nucleotide variantPathogenicrs121917953GRCh37Chr 2, 166911187: 166911187
4NM_006920.4(SCN1A): c.4024G> C (p.Val1342Leu)single nucleotide variantPathogenicrs121917954GRCh37Chr 2, 166859209: 166859209
5NM_006920.4(SCN1A): c.4935C> G (p.Ile1645Met)single nucleotide variantPathogenicrs121917955GRCh37Chr 2, 166848817: 166848817
6NM_006920.4(SCN1A): c.3577T> C (p.Trp1193Arg)single nucleotide variantPathogenicrs121917930GRCh37Chr 2, 166870349: 166870349
7NM_006920.4(SCN1A): c.3776A> C (p.Lys1259Thr)single nucleotide variantPathogenicrs121918626GRCh37Chr 2, 166868689: 166868689
8NM_006920.4(SCN1A): c.4250T> C (p.Val1417Ala)single nucleotide variantPathogenicrs121918627GRCh37Chr 2, 166858983: 166858983
9NM_006920.4(SCN1A): c.5093C> T (p.Thr1698Ile)single nucleotide variantPathogenicrs121918629GRCh37Chr 2, 166848659: 166848659
10NM_006920.4(SCN1A): c.4798G> T (p.Val1600Phe)single nucleotide variantPathogenicrs121918630GRCh37Chr 2, 166850677: 166850677
11SCN1ANM_006920.4(SCN1A): c.434T> C (p.Met145Thr)single nucleotide variantPathogenicrs121918631GRCh37Chr 2, 166912960: 166912960
12SCN1ASCN1A, 1-BP DEL, 2528GdeletionPathogenic
13SCN1ANM_006920.4(SCN1A): c.5764delC (p.Arg1922Glufs)deletionPathogenicGRCh37Chr 2, 166847988: 166847988
14GABRG2NM_198903.2(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
15GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
16GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845
17NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr)single nucleotide variantPathogenicrs121908918GRCh37Chr 2, 167141016: 167141016
18NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg)single nucleotide variantPathogenicrs121908919GRCh37Chr 2, 167138296: 167138296
19SCN1ANM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys)single nucleotide variantPathogenicrs121918775GRCh37Chr 2, 166894396: 166894396
20SCN1BNM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)single nucleotide variantPathogenicrs104894718GRCh37Chr 19, 35524558: 35524558
21SCN1BSCN1B, IVS2AS, A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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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 Suite gene sharing:

(show all 38)
idCompoundScoreTop Affiliating Genes
1(-)-bicuculline methochloride5910.3GABRD, GABRG2
2(-)-bicuculline methiodide5910.3GABRG2, GABRD
3sr 95531 hydrobromide5910.3GABRD, GABRG2
4(+)-bicuculline5910.3GABRD, GABRG2
5estazolam43 1211.3GABRD, GABRG2
6quazepam43 1211.2GABRD, GABRG2
7lamotrigine43 49 1212.2SCN2A, SCN1A
8bromazepam43 1211.2GABRD, GABRG2
9lorazepam43 49 1212.2GABRD, GABRG2
10flurazepam43 1211.2GABRD, GABRG2
11chlordiazepoxide43 1211.2GABRG2, GABRD
12topiramate43 49 24 1213.2SCN2A, SCN1A
13oxazepam49 1211.2GABRD, GABRG2
14tbps43 2811.2GABRG2, GABRD
15clonazepam43 1211.1GABRG2, GABRD
16muscimol43 59 2812.1GABRD, GABRG2
17triazolam43 1211.1GABRG2, GABRD
18clobazam43 49 1212.1GABRG2, GABRD
19alprazolam43 1211.0GABRG2, GABRD
20nitrazepam43 1211.0SCN1A, GABRD, GABRG2
21Gamma-Aminobutyric acid2410.0GABRG2, GABRD
22midazolam43 49 1211.9GABRG2, GABRD
23carbamazepine43 49 1211.9SCN2A, SCN1A
24atx-ii289.8SCN8A, SCN1A, SCN2A
25bc-iii289.8SCN2A, SCN8A, SCN1A
26aft-ii289.8SCN8A, SCN1A, SCN2A
27diazepam43 28 49 1212.8GABRD, GABRG2
28zonisamide43 49 1211.7SCN1A, SCN1B, SCN9A, SCN2A
29phenytoin43 49 28 1212.6SCN2A, SCN1A
30saxitoxin289.5SCN1A, SCN9A, SCN2A, SCN8A
31batrachotoxin289.5SCN9A, SCN1A, SCN8A, SCN2A
32tetrodotoxin citrate599.3SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
33qx 314 chloride599.3SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
34phrixotoxin 3599.3SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
35veratridine43 59 2811.3SCN1B, SCN1A, SCN8A, SCN2A, SCN9A
36tetrodotoxin43 59 2811.3SCN1B, SCN2A, SCN8A, SCN1A, SCN9A
37potassium43 24 1211.2SCN1A, KCNQ2, SCN8A, SCN1B, GABRG2
38sodium43 249.1SCN1A, SCN7A, GABRG2, SCN8A, KCNQ2, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347079.9GABRG2, GABRD
2intercalated discGO:00147049.5SCN2A, SCN1B, SCN1A
3axon initial segmentGO:00431949.3KCNQ2, SCN8A, SCN1A
4T-tubuleGO:00303159.3SCN2A, SCN1B, SCN1A
5node of RanvierGO:00332688.8KCNQ2, SCN8A, SCN1A, SCN1B, SCN2A
6voltage-gated sodium channel complexGO:00015188.5SCN7A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neuronal action potential propagationGO:001922710.1SCN1A, SCN1B
2neuronal action potentialGO:001922810.0SCN9A, SCN1A
3adult walking behaviorGO:00076289.8SCN1A, SCN8A
4myelinationGO:00425529.8SCN2A, SCN8A
5response to toxic substanceGO:00096369.7SCN9A, SCN8A
6transportGO:00068109.5STX1B, GABRD, GABRG2
7synaptic transmissionGO:00072689.1GABRG2, GABRD, STX1B, SCN1B, KCNQ2
8sodium ion transmembrane transportGO:00357259.1SCN8A, SCN1A, SCN1B, SCN9A, SCN2A
9axon guidanceGO:00074119.1SCN1B, SCN8A, KCNQ2
10sodium ion transportGO:00068148.8SCN7A, SCN2A, SCN9A, SCN1A, SCN8A

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.9GABRG2, GABRD
2GABA-A receptor activityGO:00048909.6GABRG2, GABRD
3extracellular ligand-gated ion channel activityGO:00052309.5STX1B, GABRD, GABRG2
4voltage-gated sodium channel activityGO:00052488.4SCN7A, SCN2A, SCN9A, SCN1B, SCN1A, SCN8A

Products for genes affiliated with Generalized Epilepsy with Febrile Seizures Plus

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Sources for Generalized Epilepsy with Febrile Seizures Plus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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