KEGG   DISEASE: 若年性欠神てんかん
エントリ  
H02216                                                             
名称    
若年性欠神てんかん
  上位グループ
特発性全般てんかん [DS:H00808]
概要    
Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The seizure onset is typically between 9 and 13 years of age.
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
   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
    H02216  若年性欠神てんかん
病因遺伝子 
(EJA1) EFHC1 [HSA:114327] [KO:K23029]
(EJA2) CLCN2 [HSA:1181] [KO:K05011]
リンク   
ICD-11: 8A61.31
MeSH: D004832
OMIM: 607631 607628
文献    
  著者
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A
  タイトル
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
  雑誌
Neurology 67:2029-31 (2006)
DOI:10.1212/01.wnl.0000250254.67042.1b
文献    
  著者
Danhofer P, Brazdil M, Oslejskova H, Kuba R
  タイトル
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center.
  雑誌
Seizure 23:443-7 (2014)
DOI:10.1016/j.seizure.2014.03.002
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