MCID: GNR002
MIFTS: 38

Generalized Epilepsy with Febrile Seizures Plus malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus

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Sources:
10Disease Ontology, 51Orphanet, 24GTR, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Generalized Epilepsy with Febrile Seizures Plus:

Name: Generalized Epilepsy with Febrile Seizures Plus 10
Generalized Epilepsy with Febrile Seizures-Plus 51 24
 
Gefs+ 10 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
generalized epilepsy with febrile seizures-plus:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:0060170
Orphanet51 36387
ICD10 via Orphanet28 G40.3

Summaries for Generalized Epilepsy with Febrile Seizures Plus

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Disease Ontology:10 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 epilepsy, generalized, with febrile seizures plus, type 5 and febrile seizures. 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 Synaptic Neurotransmission: GABAergic Inhibition and Nicotine addiction. Related mouse phenotypes are nervous system and mortality/aging.

Wikipedia:68 Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where... more...

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus

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Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 Generalized Epilepsy with Febrile Seizures Plus, Type 9
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus
Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus Stx1b-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 86)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, generalized, with febrile seizures plus, type 529.8CHRNA4, GABRD, GABRG2, KCNQ3, ME2, SCN1A
2febrile seizures11.2
3generalized epilepsy with febrile seizures plus, type 910.8
4neuronitis10.7
5epilepsy, generalized, with febrile seizures plus, type 210.7
6febrile seizures, familial, 3b10.7
7epilepsy, generalized, with febrile seizures plus, type 310.7
8epilepsy, generalized, with febrile seizures plus, type 110.7
9stx1b-related generalized epilepsy with febrile seizures plus10.7
10dravet syndrome10.6
11gabrd-related generalized epilepsy with febrile seizures plus10.6
12gabrg2-related generalized epilepsy with febrile seizures plus10.6
13scn1b-related generalized epilepsy with febrile seizures plus10.6
14scn9a-related generalized epilepsy with febrile seizures plus10.6
15scn1a- related generalized epilepsy with febrile seizures plus10.6
16epilepsy syndrome10.5
17febrile seizures, familial, 110.4
18neuroblastoma10.3
19breast cancer10.3
20brugada syndrome 510.3SCN1A, SCN1B
21scn9a-related inherited erythromelalgia10.2SCN1A, SCN1B, SCN9A
22hypothalamic hamartomas with gelastic seizures10.2GABRG2, SCN1A, SCN8A
23neural tube defects10.2
24leukemia10.2
25shaken baby syndrome10.1KCNQ2, SCN1A, SCN2A
26obesity10.1
27alcoholic hepatitis10.1
28colorectal adenoma10.1
29chronic interstitial cystitis10.1
30first-degree atrioventricular block10.1SCN1A, SCN2A, TBC1D24
31norse10.1SCN4A, SCN7A
32seizures, benign familial infantile, 310.1KCNQ2, SCN2A
33polyhydramnios, megalencephaly, and symptomatic epilepsy10.1SCN4A, SCN7A
34olfactory nerve disease10.1CHRNA4, GABRG2, SCN1A, SCN1B
35spondylocostal dysostosis10.0KCNQ2, SCN1A, TBC1D24
36neurological consequences of cytomegalovirus infection10.0SCN4A, SCN7A, SCN8A
37epileptic hemiplegia10.0KCNQ2, SCN1A, SCN2A, SCN8A
38superior mesenteric artery syndrome10.0SCN3A, SCN9A
39substernal goiter10.0KCNQ2, SCN2A, SCN8A
40myotonia congenita, atypical, acetazolamide-responsive10.0SCN4A, SCN7A
41multiple endocrine neoplasia10.0SCN1A, TBC1D24
42multiple sclerosis, disease progression, modifier of10.0
43hepatitis c virus10.0
44myotonic dystrophy 210.0
45abdominal obesity-metabolic syndrome 310.0
46myotonic dystrophy 110.0
47amyotrophic lateral sclerosis 110.0
48acute myocardial infarction10.0
49bipolar disorder10.0
50cutaneous leishmaniasis10.0

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ampicillinapproved5069-53-46249
Synonyms:
(2S,5R,6R)-6-[[(2R)-2-amino-2-phenylacetyl]amino]-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
(2S,5R,6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
(2S,5R,6R)-6-{[(2R)-2-amino-2-phenylethanoyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid
1h8s
33604-21-6
37234-64-3
47355-94-2
50584-05-9
6-(D(-)-alpha-Aminophenylacetamido)penicillanic acid
6-(D-(2-amino-2-Phenylacetamido))-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid
6-(a-Aminophenylacetamido)penicillanic acid
6-D(-)-alpha-Aminophenylacetamido-penicillanic acid
6-[(Aminophenylacetyl)amino]-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid, 9CI
69-52-3 (mono-hydrochloride salt)
69-53-4
6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carbonyl
6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid
7177-48-2 (TRIHYDRATE)
800-79-3
8056-87-9
96707-69-6
98520-55-9
A9393_SIGMA
AB-PC
AB-PC Sol
ABPC
AC-14075
AC1L1M46
AMP
AMPI
AMPICILLIN (SEE ALSO AMPICILLIN TRIHYDRATE 7177-48-2)
AP
AY 6108
AY 6108
AY-6108
Acillin
Adobacillin
Alpen
Amblosin
Amcill
Amfipen
Amfipen V
Amfipen v
Aminobenzylpenicillin
Amipenix S
Ampen
Ampi-Co
Ampi-Tab
Ampi-bol
Ampi-co
Ampi-tab
Ampichel
Ampicil
Ampicilina
Ampicilina [INN-Spanish]
Ampicillin
Ampicillin (USP/INN)
Ampicillin A
Ampicillin Acid
Ampicillin Anhydrate
Ampicillin Anhydrous
Ampicillin Base
Ampicillin Sodium
Ampicillin Trihydrate
Ampicillin [USAN:BAN:INN:JAN]
Ampicillin [USAN:INN:BAN:JAN]
Ampicillin [Usan:Ban:Inn:Jan]
Ampicillin acid
Ampicillin anhydrate
Ampicillin sodium
Ampicillina
Ampicillina [DCIT]
Ampicillina [Dcit]
Ampicilline
Ampicilline [INN-French]
Ampicillinum
Ampicillinum [INN-Latin]
Ampicin
Ampifarm
Ampikel
Ampimed
Ampipenin
Ampipenin, nt3
Ampiscel
Ampisyn
Ampivax
Ampivet
Amplacilina
Amplin
Amplipenyl
Amplisom
Amplital
Ampy-Penyl
Anhydrous Ampicillin
Anhydrous ampicillin
Anhydrous ampicillin (JP15)
Austrapen
BA 7305
BIDD:GT0184
BPBio1_000142
BRL 1341
BRL-1341
BSPBio_000128
BSPBio_001862
Bayer 5427
Binotal
Bonapicillin
Britacil
C06574
CHEBI:28971
CHEBI:53713
CHEMBL174
CID6249
Campicillin
Cimex
Copharcilin
D-(-)-6-(alpha-Aminophenylacetamido)penicillanic acid
D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid
D-(-)-Ampicillin
D-(-)-alpha-Aminobenzylpenicillin
D-(-)-alpha-Aminopenicillin
D-(-)-ampicillin
D-(−)-6-(α-aminophenylacetamido)penicillanic acid
D-(−)-ampicillin
D-Ampicillin
D-Cillin
D-a-Aminobenzylpenicillin
D00204
DB00415
Delcillin
Deripen
 
DivK1c_000466
Divercillin
Doktacillin
Duphacillin
EINECS 200-709-7
Geocillin
Grampenil
Guicitrina
Guicitrine
HI 63
HMS2090I11
HSDB 3009
IDI1_000466
KBio1_000466
KBio2_000430
KBio2_002998
KBio2_005566
KBio3_001362
KBioGR_000598
KBioSS_000430
KS-R1
LS-1586
LS-169948
Lifeampil
MLS000028405
MLS001074168
Magnapen
Marcillin
MolPort-001-794-635
Morepen
NCGC00023282-05
NCGC00023282-06
NINDS_000466
NSC 528986
NSC-528986
NSC528986
Norobrittin
Novo-ampicillin
Nuvapen
OMNIPEN (AMPICILLIN)
Olin Kid
Olin kid
Omnipen
Omnipen (TN)
Omnipen-N
Orbicilina
P 50
P-50
Pen A
Pen A Oral
Pen Ampil
Pen a
Pen ampil
Penbristol
Penbritin
Penbritin paediatric
Penbritin syrup
Penbritin-S
Penbrock
Penicillin, Aminobenzyl
Penicline
Penimic
Pensyn
Pentrex
Pentrexl
Pentrexyl
Pentritin
Pfizerpen A
Pfizerpen a
Pfizerpen-A
Polycillin
Polycillin-N
Polyflex (Veterinary)
Ponecil
Prestwick0_000114
Prestwick1_000114
Prestwick2_000114
Prestwick3_000114
Princillin
Principen
Principen '125'
Principen '250'
Principen '500'
QIDamp
Qidamp
Racenacillin
Ro-Ampen
Ro-ampen
Rosampline
Roscillin
SBB063111
SK-Ampicillin
SK-ampicillin
SMP1_000211
SMR000058352
SPBio_000818
SPBio_002067
SQ 17382
Semicillin
Semicillin R
Servicillin
Spectrum2_000769
Spectrum3_000301
Spectrum4_000149
Spectrum5_000814
Spectrum_000050
Sumipanto
Supen
Synpenin
Texcillin
Tokiocillin
Tolomol
Totacillin
Totacillin (sodium)
Totacillin-N
Totalciclina
Totapen
Trifacilina
UNII-7C782967RD
Ukapen
Ultrabion
Ultrabron
Vampen
Viccillin
Viccillin S
Vidocillin
Vidopen
WY-5103
Wypicil
alpha-Aminobenzylpenicillin
ampicillanyl
ampicillin
anhydrous ampicillin
2Emetics159

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of CareRecruitingNCT01431326

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 Plus24

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.9CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1A
2MP:00107687.2CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1A
3MP:00053866.8CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1A

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 51)
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
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? (19203856)
2009
13
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
14
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus. (19236456)
2009
15
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. (19409490)
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:

5 (show all 42)
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
13NM_006920.4(SCN1A): c.5764delC (p.Arg1922Glufs)deletionPathogenicrs587780446GRCh37Chr 2, 166847988: 166847988
14GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
15GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845
16STX1BNM_052874.4(STX1B): c.166C> T (p.Gln56Ter)single nucleotide variantPathogenicrs724159973GRCh38Chr 16, 31001133: 31001133
17STX1BSTX1B, INS/DEL, NT133 AND LEU46METindelPathogenic
18STX1BNM_052874.4(STX1B): c.140C> A (p.Ser47Ter)single nucleotide variantPathogenicrs200979563GRCh38Chr 16, 31001159: 31001159
19STX1BNM_052874.4(STX1B): c.647T> A (p.Val216Glu)single nucleotide variantPathogenicrs724159974GRCh38Chr 16, 30993375: 30993375
20STX1BNM_052874.4(STX1B): c.676G> C (p.Gly226Arg)single nucleotide variantPathogenicrs727502806GRCh38Chr 16, 30993240: 30993240
21SCN1ANM_006920.4(SCN1A): c.2557-2A> Gsingle nucleotide variantPathogenicrs727504140GRCh37Chr 2, 166894644: 166894644
22SCN1ANM_001165963.1(SCN1A): c.2420dupT (p.Thr808Hisfs)duplicationPathogenicrs786200989GRCh37Chr 2, 166896102: 166896102
23SCN1ANM_001165963.1(SCN1A): c.2584C> T (p.Arg862Ter)single nucleotide variantPathogenicrs397514459GRCh37Chr 2, 166895938: 166895938
24SCN1ANM_006920.4(SCN1A): c.2181G> A (p.Trp727Ter)single nucleotide variantPathogenicrs786205214GRCh38Chr 2, 166041432: 166041432
25SCN1BNM_001037.4(SCN1B): c.347delC (p.Ser116Trpfs)deletionPathogenicrs794727487GRCh37Chr 19, 35524542: 35524542
26SCN1ANM_006920.4(SCN1A): c.830delG (p.Cys277Leufs)deletionPathogenicrs794727786GRCh37Chr 2, 166908363: 166908363
27NM_006920.4(SCN1A): c.4411A> C (p.Ile1471Leu)single nucleotide variantLikely pathogenicrs794729200GRCh37Chr 2, 166854580: 166854580
28SCN1ANM_006920.4(SCN1A): c.2923_2924delCT (p.Phe976Serfs)deletionPathogenicrs794729207GRCh37Chr 2, 166893030: 166893031
29NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr)single nucleotide variantPathogenicrs121908918GRCh37Chr 2, 167141016: 167141016
30NM_006920.4(SCN1A): c.5522T> C (p.Met1841Thr)single nucleotide variantPathogenicrs121918783GRCh37Chr 2, 166848230: 166848230
31SCN1BNM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)single nucleotide variantPathogenicrs104894718GRCh37Chr 19, 35524558: 35524558
32SCN1BNM_001037.4(SCN1B): c.208-2A> Csingle nucleotide variantPathogenicrs724159982GRCh38Chr 19, 35033497: 35033497
33SCN1ANM_006920.4(SCN1A): c.1029-1G> Csingle nucleotide variantPathogenicrs398123579GRCh37Chr 2, 166904279: 166904279
34SCN1ANM_006920.4(SCN1A): c.1162delT (p.Tyr388Ilefs)deletionPathogenicrs398123580GRCh37Chr 2, 166904145: 166904145
35SCN1ANM_006920.4(SCN1A): c.1766A> T (p.Asp589Val)single nucleotide variantLikely pathogenicrs398123584GRCh37Chr 2, 166900456: 166900456
36SCN1ANM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter)single nucleotide variantPathogenicrs398123585GRCh37Chr 2, 166900385: 166900385
37SCN1ANM_006920.4(SCN1A): c.2543G> A (p.Arg848His)single nucleotide variantPathogenicrs398123588GRCh37Chr 2, 166895946: 166895946
38NM_006920.4(SCN1A): c.3613G> A (p.Glu1205Lys)single nucleotide variantLikely pathogenicrs398123590GRCh37Chr 2, 166870313: 166870313
39NM_006920.4(SCN1A): c.4186C> T (p.Arg1396Ter)single nucleotide variantPathogenicrs398123593GRCh37Chr 2, 166859047: 166859047
40NM_006920.4(SCN1A): c.4251+2T> Csingle nucleotide variantPathogenicrs398123595GRCh37Chr 2, 166858980: 166858980
41NM_006920.4(SCN1A): c.5108T> C (p.Met1703Thr)single nucleotide variantLikely pathogenicrs121917949GRCh37Chr 2, 166848644: 166848644
42NM_006920.4(SCN1A): c.5506delC (p.Leu1836Serfs)deletionPathogenicrs398123599GRCh37Chr 2, 166848246: 166848246

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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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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor complexGO:190271110.8GABRD, GABRG2
2T-tubuleGO:003031510.5SCN1A, SCN1B, SCN2A
3intercalated discGO:001470410.5SCN1A, SCN1B, SCN2A
4sodium channel complexGO:003470610.3SCN1A, SCN1B, SCN2A, SCN8A
5axon initial segmentGO:00431949.9KCNQ2, KCNQ3, SCN1A, SCN8A
6neuron projectionGO:00430059.6CHRNA4, GABRD, GABRG2, KCNQ3
7neuronal cell bodyGO:00430259.5CHRNA4, KCNQ3, SCN1A, SCN8A
8node of RanvierGO:00332689.4KCNQ2, KCNQ3, SCN1A, SCN1B, SCN2A, SCN8A
9voltage-gated sodium channel complexGO:00015188.5SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN7A
10plasma membraneGO:00058866.2CHRNA4, GABRG2, KCNQ2, KCNQ3, SCN1A, SCN2A
11membraneGO:00160205.9CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1A

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1action potentialGO:000150810.5CHRNA4, SCN1A
2membrane depolarizationGO:005189910.3CHRNA4, SCN1B
3neuronal action potential propagationGO:001922710.1SCN1A, SCN1B
4neurological system processGO:005087710.0CHRNA4, GABRD, GABRG2
5regulation of membrane potentialGO:00423919.5CHRNA4, GABRD, GABRG2, SCN1A
6synaptic transmissionGO:00072688.5CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1B
7membrane depolarization during action potentialGO:00860108.4SCN1A, SCN2A, SCN3A, SCN4A, SCN7A, SCN8A
8neuronal action potentialGO:00192288.4SCN1A, SCN2A, SCN3A, SCN4A, SCN7A, SCN8A
9sodium ion transmembrane transportGO:00357258.3SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN7A
10sodium ion transportGO:00068148.1SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN7A
11regulation of ion transmembrane transportGO:00347657.6KCNQ2, KCNQ3, SCN1A, SCN2A, SCN3A, SCN4A
12transmembrane transportGO:00550857.1GABRG2, KCNQ2, KCNQ3, SCN1A, SCN2A, SCN3A
13ion transportGO:00068116.7CHRNA4, GABRD, GABRG2, KCNQ2, KCNQ3, SCN1A

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

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:000489010.5GABRD, GABRG2
2extracellular ligand-gated ion channel activityGO:00052309.8CHRNA4, GABRD, GABRG2
3voltage-gated sodium channel activityGO:00052488.1SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN7A
4ion channel activityGO:00052166.9CHRNA4, KCNQ2, KCNQ3, SCN1A, SCN2A, SCN3A

Sources for Generalized Epilepsy with Febrile Seizures Plus

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet