KEGG   DISEASE: ミオクロニー欠神てんかん
エントリ  
H01822                                                             
名称    
ミオクロニー欠神てんかん
概要    
Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis is based on clinical observation and ictal polygraphic and video-EEG recording. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz. The age of onset of seizures is usually between 3 and 12 years, with a peak at around 5 to 7 years of age. The mental development of children with EMA is usually slow, and the long-term prognosis is poor.
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
   H01822  ミオクロニー欠神てんかん
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
   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
    H01822  ミオクロニー欠神てんかん
特定疾患 (難病) [jp08407.html]
 H01822
コメント  
See also H00808 Idiopathic generalized epilepsies.
リンク   
ICD-11: 8A61.23
ICD-10: G40.3
MeSH: D004831
文献    
  著者
Bureau M, Tassinari CA
  タイトル
Epilepsy with myoclonic absences.
  雑誌
Brain Dev 27:178-84 (2005)
DOI:10.1016/j.braindev.2004.01.008
文献    
PMID:27770719 (drug)
  著者
Zanzmera P, Menon RN, Karkare K, Soni H, Jagtap S, Radhakrishnan A
  タイトル
Epilepsy with myoclonic absences: Electroclinical characteristics in a distinctive pediatric epilepsy phenotype.
  雑誌
Epilepsy Behav 64:242-247 (2016)
DOI:10.1016/j.yebeh.2016.08.023
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