KEGG   DISEASE: Febrile seizuresHelp
Entry
H00783                      Disease                                

Name
Febrile seizures
  Subgroup
Febrile convulsions
Generalized epilepsy with febrile seizure plus (GEFS+)
Dravet syndrome/ Severe myoclonic epilepsy in infancy [DS:H01818]
Description
Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS. Severe epilepsy phenotypes such as Dravet syndrome (SMEI) have also been described within GEFS+ families. A significant genetic component exists for susceptibility to FS and GEFS+. Extensive genetic studies have shown that at least ten loci are responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H00783  Febrile seizures
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A63  Seizure due to acute causes
    H00783  Febrile seizures
BRITE hierarchy
Pathway
hsa04728  Dopaminergic synapse
hsa04080  Neuroactive ligand-receptor interaction
hsa04727  GABAergic synapse
Gene
(FEB3A/GEFS+2/SMEI) SCN1A [HSA:6323] [KO:K04833]
(FEB3B/GEFS+7) SCN9A [HSA:6335] [KO:K04841]
(FEB4) GPR98 [HSA:84059] [KO:K18263]
(FEB8/GEFS+3) GABRG2 [HSA:2566] [KO:K05186]
(FEB11) CPA6 [HSA:57094] [KO:K08782]
(GEFS+1) SCN1B [HSA:6324] [KO:K04845]
(GEFS+5) GABRD [HSA:2563] [KO:K05184]
(GEFS+9) STX1B [HSA:112755] [KO:K08486]
Other DBs
ICD-11: 8A63.0
ICD-10: G40.3 G40.4
MeSH: D003294
OMIM: 121210 604403 613863 604352 611277 604233 613060 607208 616172 614418
Reference
  Authors
Piro RM, Molineris I, Ala U, Di Cunto F
  Title
Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.
  Journal
PLoS One 6:e23149 (2011)
DOI:10.1371/journal.pone.0023149
Reference
  Authors
Nakayama J, Arinami T
  Title
Molecular genetics of febrile seizures.
  Journal
Epilepsy Res 70 Suppl 1:S190-8 (2006)
DOI:10.1016/j.eplepsyres.2005.11.023
Reference
  Authors
Nakayama J
  Title
Progress in searching for the febrile seizure susceptibility genes.
  Journal
Brain Dev 31:359-65 (2009)
DOI:10.1016/j.braindev.2008.11.014
Reference
  Authors
Lux AL
  Title
Treatment of febrile seizures: historical perspective, current opinions, and potential future directions.
  Journal
Brain Dev 32:42-50 (2010)
DOI:10.1016/j.braindev.2009.09.016
Reference
  Authors
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, Caliebe A, Nagel I, Kohl B, Kecskes A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Moller RS, Hjalgrim H, Koeleman BP, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nurnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H
  Title
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
  Journal
Nat Genet 46:1327-32 (2014)
DOI:10.1038/ng.3130
Reference
  Authors
Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
  Title
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
  Journal
Hum Mutat 33:124-35 (2012)
DOI:10.1002/humu.21613
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