KEGG   DISEASE: ウエスト症候群
エントリ  
H01460                                                             
名称    
ウエスト症候群;
点頭てんかん
  上位グループ
早期乳児てんかん性脳症 [DS:H00606]
症候性全般てんかん [DS:H00577]
概要    
West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal electroencephalographic pattern (hypsarrhythmia), and (c) intellectual or neurodevelopmental disabilities. Most cases present at peak age of onset between 3 and 7 months, with 90% of patients presenting in the first year. The etiology of West syndrome is varied, ranging from structural, metabolic, unknown etiologies or genetic causes. Approximately 50% of cases have a prenatal cause, which includes central nervous system malformations, intrauterine insults, neurocutaneous syndromes such as tuberous sclerosis complex (TSC), metabolic disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin.
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
   H01460  ウエスト症候群
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
   8A62  てんかん性脳症
    H01460  ウエスト症候群
特定疾患 (難病) [jp08407.html]
 H01460
病因遺伝子 
ARX [HSA:170302] [KO:K09452]
治療薬   
ニトラゼパム [DR:D00531]
トリメタジオン [DR:D00392]
プリミドン [DR:D00474]
エトスクシミド [DR:D00539]
クロナゼパム [DR:D00280]
ビガバトリン [DR:D00535]
テトラコサクチド酢酸塩 [DR:D02105]
リンク   
ICD-11: 8A62.0
ICD-10: G40.4
MeSH: D013036
OMIM: 308350
文献    
  著者
Galanopoulou AS, Moshe SL
  タイトル
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
  雑誌
Neurobiol Dis 79:135-49 (2015)
DOI:10.1016/j.nbd.2015.04.015
文献    
  著者
Galanopoulou AS
  タイトル
Basic mechanisms of catastrophic epilepsy -- overview from animal models.
  雑誌
Brain Dev 35:748-56 (2013)
DOI:10.1016/j.braindev.2012.12.005
文献    
  著者
Chudomelova L, Scantlebury MH, Raffo E, Coppola A, Betancourth D, Galanopoulou AS
  タイトル
Modeling new therapies for infantile spasms.
  雑誌
Epilepsia 51 Suppl 3:27-33 (2010)
DOI:10.1111/j.1528-1167.2010.02605.x
文献    
  著者
Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW
  タイトル
Infantile spasms: a U.S. consensus report.
  雑誌
Epilepsia 51:2175-89 (2010)
DOI:10.1111/j.1528-1167.2010.02657.x
文献    
  著者
Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
  タイトル
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
  雑誌
Am J Hum Genet 81:361-6 (2007)
DOI:10.1086/518903
LinkDB    

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