KEGG   DISEASE: ドラベ症候群
エントリ  
H01818                                                             
名称    
ドラベ症候群
  上位グループ
症候性全般てんかん [DS:H00577]
熱性けいれん [DS:H00783]
概要    
The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene.
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
   H01818  ドラベ症候群
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
   8A61  主にてんかんとして発現する遺伝的または推定される遺伝的症候群
    H01818  ドラベ症候群
指定難病 [jp08407.html]
 H01818
パスウェイ 
hsa04728  Dopaminergic synapse
病因遺伝子 
SCN1A [HSA:6323] [KO:K04833]
治療薬   
フェンフルラミン塩酸塩 [DR:D04148]
スチリペントール [DR:D05928]
コメント  
See also H00606 Early infantile epileptic encephalopathy.
リンク   
ICD-11: 8A61.11
ICD-10: G40.4
MeSH: D004831
OMIM: 607208
文献    
  著者
Dravet C
  タイトル
The core Dravet syndrome phenotype.
  雑誌
Epilepsia 52 Suppl 2:3-9 (2011)
DOI:10.1111/j.1528-1167.2011.02994.x
文献    
  著者
Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC
  タイトル
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
  雑誌
J Med Genet 47:137-41 (2010)
DOI:10.1136/jmg.2008.065912
文献    
  著者
Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
  タイトル
Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan.
  雑誌
Brain Dev 30:629-35 (2008)
DOI:10.1016/j.braindev.2008.03.002
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