Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Febrile Seizures
go back to main search page
Accession:DOID:9007956 term browser browse the term
Definition:Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)
Synonyms:exact_synonym: COMPLEX FEBRILE SEIZURES;   Febrile Convulsion;   Febrile Convulsion Seizure;   Febrile Convulsion Seizures;   Febrile Convulsions;   Febrile Fit;   Febrile Fits;   Febrile Seizure;   Fever Convulsion;   Fever Convulsions;   Fever Seizure;   Fever Seizures;   Pyrexial Convulsion;   Pyrexial Convulsions;   Pyrexial Seizure;   Pyrexial Seizures;   febrile seizure, complex;   febrile seizure, simple
 primary_id: MESH:D003294
 alt_id: RDO:0005271
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Febrile Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta IEP RGD PMID:23237195 RGD:9587751 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Ano3 anoctamin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Avp arginine vasopressin IDA RGD PMID:12438923 RGD:1579871 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Casp1 caspase 1 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp12 caspase 12 IEP RGD PMID:18675883 RGD:2311454 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:30311386 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A susceptibility ISO RGD PMID:29223763 RGD:27095962 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:24373994 RGD:13504853 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP RGD PMID:15837575 RGD:9686385 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:30311386 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:16393156 RGD:1626672 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:16393156 RGD:1626672 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Impa2 inositol monophosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15557493 NCBI chr18:63,016,577...63,050,123
Ensembl chr18:63,016,577...63,047,781
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:30311386 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Mir223 microRNA 223 treatment IEP
IDA
RNA:decreased expression:hippocampus: RGD PMID:30947016, PMID:30947016 RGD:25823138, RGD:25823138 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with influenza; protein:increased expression:serum RGD PMID:17529876 RGD:5130920 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 treatment IEP RGD PMID:30947016 RGD:25823138 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:30311386 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
G Npy neuropeptide Y IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:15800380 RGD:1580179 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:30311386 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Nrg1 neuregulin 1 ISO associated with influenza;mRNA:increased expression:blood (human) RGD PMID:16690933 RGD:39456106 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Complex febrile seizures ClinVar PMID:25741868 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Complex febrile seizures ClinVar PMID:28492532 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Febrile convulsions ClinVar PMID:30311386 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 susceptibility ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Febrile convulsions
ClinVar Annotator: match by term: Febrile seizures
DNA:missense mutations:cds:p.E539A,p.N1417H(rat)
CTD
ClinVar
PMID:11254445, PMID:18021921, PMID:21396429, PMID:21480876, PMID:22550089, PMID:22780858, PMID:23398611, PMID:25344690, PMID:25362483, PMID:25741868, PMID:26990884, PMID:28492532, PMID:29358611, PMID:30311386, PMID:20410126 RGD:12792282 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo IMP RGD PMID:20410126 RGD:12792282
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344690 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:30311386 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Stx1b syntaxin 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25362483 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Febrile seizures ClinVar PMID:23965844, PMID:25741868, PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:11326274, PMID:11326275, PMID:11748509, PMID:12097483, PMID:12117362, PMID:12477709, PMID:15342642, PMID:15470132, PMID:15866052, PMID:16510738, PMID:16924025, PMID:17148443, PMID:18094250, PMID:18414213, PMID:18566737, PMID:20485450, PMID:20551311, PMID:21425109, PMID:22190369, PMID:22539854, PMID:22750526, PMID:23708187, PMID:23720301, PMID:23935098, PMID:24407264, PMID:24480790, PMID:24630281, PMID:24811917, PMID:25726841, PMID:25730860, PMID:25731747, PMID:25741868, PMID:26467025, PMID:27066572, PMID:27334371, PMID:27340224, PMID:27367160, PMID:27864268, PMID:27899622, PMID:28460589, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29778030 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
familial febrile seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Familial Febrile Seizures ClinVar PMID:21698661, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
familial febrile seizures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 1 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 1 ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
familial febrile seizures 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 11 OMIM
ClinVar
PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:27781031, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
Familial Febrile Seizures 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 3a ClinVar PMID:15805193, PMID:16326807, PMID:17001291, PMID:17436242, PMID:19289736, PMID:19949041, PMID:21453355, PMID:21561445, PMID:22188362, PMID:22292851, PMID:22591328, PMID:22992668, PMID:23859570, PMID:25155934, PMID:26314341, PMID:26555147 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
Familial Febrile Seizures 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 3b ClinVar PMID:19763161, PMID:25741868, PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
familial febrile seizures 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Febrile seizures, familial, 4
ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4
ClinVar Annotator: match by OMIM:604352
OMIM
ClinVar
PMID:12402266, PMID:14740321, PMID:15671307, PMID:18414213, PMID:22135276, PMID:22334370, PMID:24033266, PMID:24498627, PMID:25741868, PMID:26164827, PMID:26467025, PMID:27575413, PMID:28041643, PMID:28492532 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
familial febrile seizures 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Familial febrile seizures 8
ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8
ClinVar
OMIM
PMID:9894880, PMID:11326274, PMID:11326275, PMID:11748509, PMID:12097483, PMID:12117362, PMID:15342642, PMID:15470132, PMID:15866052, PMID:16510738, PMID:16924025, PMID:17148443, PMID:18094250, PMID:23708187, PMID:23935098, PMID:24630281, PMID:25726841, PMID:25730860, PMID:25731747, PMID:25741868, PMID:26467025, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS
DNA:missense mutation:cds:p.V1417A (human)
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar
MouseDO
PMID:24337656, PMID:25741868, PMID:26467025, PMID:28492532, PMID:11823106 RGD:1358571 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS
ISO
OMIM:604233 | OMIM:604403 | OMIM:609800 | OMIM:611277 | OMIM:612279 | OMIM:613828 | OMIM:613863
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
MouseDO
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17928445, PMID:18941776, PMID:20437590, PMID:20628201, PMID:21994374, PMID:22292491, PMID:22425777, PMID:23527921, PMID:23584539, PMID:24065921, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24747835, PMID:25741868, PMID:25827112, PMID:26467025, PMID:27216889, PMID:27277800, PMID:28331474, PMID:28492532, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:21698661, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar PMID:10521305, PMID:10742094, PMID:11254444, PMID:11254445, PMID:11524484, PMID:11567038, PMID:11756608, PMID:12086636, PMID:12576172, PMID:12919402, PMID:14672992, PMID:14702334, PMID:16075041, PMID:16525050, PMID:17507202, PMID:17561957, PMID:18413471, PMID:18804930, PMID:18930999, PMID:19464195, PMID:20117752, PMID:20522430, PMID:20550552, PMID:20600615, PMID:20729507, PMID:22780858, PMID:23195492, PMID:25348405, PMID:25576396, PMID:25741868, PMID:26096185, PMID:27066544, PMID:28192756, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15671291, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17604911, PMID:17629415, PMID:17928445, PMID:18941776, PMID:19522081, PMID:19808477, PMID:20226894, PMID:20437590, PMID:20628201, PMID:20662403, PMID:21994374, PMID:22155597, PMID:22155598, PMID:22284586, PMID:22292491, PMID:22425777, PMID:22840528, PMID:23414114, PMID:23465283, PMID:23527921, PMID:23584539, PMID:23861362, PMID:24033266, PMID:24065921, PMID:24529773, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24662403, PMID:24747835, PMID:25253298, PMID:25668026, PMID:25741868, PMID:25827112, PMID:26042039, PMID:26467025, PMID:26498160, PMID:27216889, PMID:27277800, PMID:27435932, PMID:27896052, PMID:28218389, PMID:28331474, PMID:28341588, PMID:28492532, PMID:28837624, PMID:29758173, PMID:31465153, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM
ClinVar
PMID:29936235, PMID:30351409 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO DNA:missense mutations:cds:p.T875M, p.R1648H (human)
ClinVar Annotator: match by term: GEFS+, TYPE 2
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
ClinVar Annotator: match by OMIM:604403
ClinVar
OMIM
PMID:9126059, PMID:10486327, PMID:10521305, PMID:10742094, PMID:11118488, PMID:11254444, PMID:11254445, PMID:11359211, PMID:11524484, PMID:11567038, PMID:11756608, PMID:12083760, PMID:12086636, PMID:12566275, PMID:12576172, PMID:12610651, PMID:12754708, PMID:12821740, PMID:14504318, PMID:14702334, PMID:14738421, PMID:15277629, PMID:15508915, PMID:15508916, PMID:15880351, PMID:16075041, PMID:16326807, PMID:16430863, PMID:16458823, PMID:16505326, PMID:16541393, PMID:16713913, PMID:16713920, PMID:17054684, PMID:17166794, PMID:17347258, PMID:17561957, PMID:17903680, PMID:18021921, PMID:18056581, PMID:18413471, PMID:18414213, PMID:18804930, PMID:18930999, PMID:19236456, PMID:19359143, PMID:19400878, PMID:19522081, PMID:19589774, PMID:19673951, PMID:20100831, PMID:20301494, PMID:20431604, PMID:20522430, PMID:20550552, PMID:20729507, PMID:20831750, PMID:20879882, PMID:21248271, PMID:21269283, PMID:21371021, PMID:21396429, PMID:21463290, PMID:21713554, PMID:21864321, PMID:22011963, PMID:22071555, PMID:22150645, PMID:22151702, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22719002, PMID:22780858, PMID:22848613, PMID:23195492, PMID:23398550, PMID:23398611, PMID:23527921, PMID:23808377, PMID:23884151, PMID:23934111, PMID:24066114, PMID:24097157, PMID:24136861, PMID:24168886, PMID:24328833, PMID:24337656, PMID:24464349, PMID:24836964, PMID:25348405, PMID:25378155, PMID:25741868, PMID:26096185, PMID:26188943, PMID:26467025, PMID:26845707, PMID:26990884, PMID:27236449, PMID:27267376, PMID:27465585, PMID:27781031, PMID:27864847, PMID:28148630, PMID:28192756, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29760947, PMID:30311386, PMID:30525188, PMID:30619928, PMID:30659983, PMID:32238909, PMID:32581362, PMID:10742094 RGD:727292 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7
ClinVar Annotator: match by term: GEFS+, TYPE 7
ClinVar Annotator: match by term: Febrile seizures, familial, 3b
OMIM
ClinVar
PMID:10514109, PMID:10852559, PMID:10852560, PMID:17470132, PMID:19304393, PMID:19763161, PMID:22604722, PMID:23129781, PMID:25250524, PMID:25741868, PMID:26467025, PMID:27504264, PMID:28492532, PMID:29176367, PMID:30642272 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar
OMIM
PMID:11591834, PMID:18479394, PMID:25362483, PMID:25741868, PMID:26467025, PMID:26818399, PMID:28492532, PMID:30737342 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483, PMID:26818399, PMID:28492532 NCBI chr 1:199,287,384...199,295,606
Ensembl chr 1:199,287,710...199,294,979
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483, PMID:26818399, PMID:28492532 NCBI chr 1:199,310,935...199,321,231
Ensembl chr 1:199,310,935...199,320,727
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768, PMID:16023832, PMID:16256272, PMID:16452673, PMID:17559416, PMID:23216579, PMID:26467025, PMID:28383543, PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              Febrile Seizures 47
                Febrile Seizures Associated with Afebrile Seizures 0
                familial febrile seizures + 5
                generalized epilepsy with febrile seizures plus + 9
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.