KEGG   DISEASE: Febrile seizures
Entry
H00783                      Disease                                
Name
Febrile seizures
  Subgroup
Febrile convulsions
Generalized epilepsy with febrile seizure plus [DS:H02564]
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 (GEFSP) 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
Related
pathway
hsa04723  Retrograde endocannabinoid signaling
hsa04080  Neuroactive ligand-receptor interaction
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
Gene
(FEB2) HCN2 [HSA:610] [KO:K04955]
(FEB3) SCN1A [HSA:6323] [KO:K04833]
(FEB4) ADGRV1 [HSA:84059] [KO:K18263]
(FEB8) GABRG2 [HSA:2566] [KO:K05186]
(FEB11) CPA6 [HSA:57094] [KO:K08782]
Other DBs
ICD-11: 8A63.0
ICD-10: G40.3
MeSH: D003294
OMIM: 121210 602477 604403 604352 607681 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
  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
PMID:24324597 (HCN2)
  Authors
Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S
  Title
Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.
  Journal
PLoS One 8:e80376 (2013)
DOI:10.1371/journal.pone.0080376
Reference
PMID:16326807 (SCN1A)
  Authors
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A
  Title
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
  Journal
Proc Natl Acad Sci U S A 102:18177-82 (2005)
DOI:10.1073/pnas.0506818102
Reference
PMID:32962041 (ADGRV1)
  Authors
Han JY, Lee HJ, Lee YM, Park J
  Title
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.
  Journal
Children (Basel) 7:E144 (2020)
DOI:10.3390/children7090144
Reference
PMID:27066572 (GABRG2)
  Authors
Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S
  Title
Novel GABRG2 mutations cause familial febrile seizures.
  Journal
Neurol Genet 1:e35 (2015)
DOI:10.1212/NXG.0000000000000035
Reference
PMID:21922598 (CPA6)
  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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