| H00783 | |
| H番号 | H00783 |
| 名称 | 熱性けいれん |
| 概要 | 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+. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ジアゼパム [DR:D00293] フェノバルビタールナトリウム [DR:D00701] |
| コメント | - |
| リンク | ICD-11: 8A63.0 ICD-10: G40.3 MeSH: D003294 OMIM: 121210 602477 604403 604352 607681 614418 |
| 文献 | PMID:21858011 著者 Piro RM, Molineris I, Ala U, Di Cunto F タイトル Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases. 雑誌 PLoS One 6:e23149 (2011) DOI:10.1371/journal.pone.0023149 PMID:19201561 著者 Nakayama J タイトル Progress in searching for the febrile seizure susceptibility genes. 雑誌 Brain Dev 31:359-65 (2009) DOI:10.1016/j.braindev.2008.11.014 PMID:24324597 (HCN2) 著者 Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Lossin C, Baram TZ, Hirose S タイトル Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner. 雑誌 PLoS One 8:e80376 (2013) DOI:10.1371/journal.pone.0080376 PMID:16326807 (SCN1A) 著者 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 タイトル Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 雑誌 Proc Natl Acad Sci U S A 102:18177-82 (2005) DOI:10.1073/pnas.0506818102 PMID:32962041 (ADGRV1) 著者 Han JY, Lee HJ, Lee YM, Park J タイトル Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. 雑誌 Children (Basel) 7:E144 (2020) DOI:10.3390/children7090144 PMID:27066572 (GABRG2) 著者 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 タイトル Novel GABRG2 mutations cause familial febrile seizures. 雑誌 Neurol Genet 1:e35 (2015) DOI:10.1212/NXG.0000000000000035 PMID:21922598 (CPA6) 著者 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 タイトル Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 雑誌 Hum Mutat 33:124-35 (2012) DOI:10.1002/humu.21613 |