KEGG   DISEASE: 熱性けいれん
エントリ  
H00783                                                             
名称    
熱性けいれん
  下位グループ
熱性けいれん
全般てんかん熱性けいれんプラス [DS:H02564]
ドラべ症候群・乳児重症ミオクロニーてんかん [DS:H01818]
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
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  てんかん
   H00783  熱性けいれん
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  てんかんまたは発作
   8A63  急性の原因による発作
    H00783  熱性けいれん
関連パスウェイ
hsa04723  Retrograde endocannabinoid signaling
hsa04080  Neuroactive ligand-receptor interaction
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
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]
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]
リンク   
ICD-11: 8A63.0
ICD-10: G40.3
MeSH: D003294
OMIM: 121210 602477 604403 604352 607681 614418
文献    
  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
文献    
  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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
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