KEGG   DISEASE: レノックス・ガストー症候群
エントリ  
H01813                                                             
名称    
レノックス・ガストー症候群
  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    
Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures during sleep are the feature often used as the foundation for diagnosis. LGS is characterized by multiple concurrent seizure types, including tonic, atypical absence seizures, atonic, and myoclonic jerks. Non-convulsive status epilepticus, lasting days to weeks, occurs in half of patients. The etiology of LGS is heterogeneous and includes both genetic and acquired causes. LGS most commonly first manifests in children between 3 and 5 years of age, but onset can also occur at younger and older ages. It has been reported that 20-36% of children diagnosed with LGS syndrome have a history of West syndrome.
カテゴリ  
神経系疾患
階層分類  
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
    H01813  レノックス・ガストー症候群
指定難病 [jp08407.html]
 H01813
パスウェイ 
hsa04010  MAPK signaling pathway
hsa04935  Growth hormone synthesis, secretion and action
hsa04728  Dopaminergic synapse
病因遺伝子 
MAPK10 [HSA:5602] [KO:K04440]
治療薬   
フェンフルラミン塩酸塩 [DR:D04148]
ルフィナミド [DR:D05775]
ラモトリギン [DR:D00354]
リンク   
ICD-11: 8A62.1
MeSH: D065768
OMIM: 606369
文献    
  著者
Bourgeois BF, Douglass LM, Sankar R
  タイトル
Lennox-Gastaut syndrome: a consensus approach to differential diagnosis.
  雑誌
Epilepsia 55 Suppl 4:4-9 (2014)
DOI:10.1111/epi.12567
文献    
  著者
You SJ, Kim HD, Kang HC
  タイトル
Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome.
  雑誌
Pediatr Neurol 41:111-3 (2009)
DOI:10.1016/j.pediatrneurol.2009.03.006
文献    
  著者
Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK
  タイトル
CHD2 mutations in Lennox-Gastaut syndrome.
  雑誌
Epilepsy Behav 33:18-21 (2014)
DOI:10.1016/j.yebeh.2014.02.005
文献    
  著者
Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM
  タイトル
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
  雑誌
Hum Genet 118:559-67 (2006)
DOI:10.1007/s00439-005-0084-y
LinkDB    

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