| H00783 | |
| H number | H00783 |
| Name | Febrile seizures |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A63.0 ICD-10: G40.3 MeSH: D003294 OMIM: 121210 602477 604403 604352 607681 614418 |
| Reference | PMID:21858011 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 PMID:19201561 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 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 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 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 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 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 |