KEGG   DISEASE: 全般てんかん及び発作性ジスキネジア
エントリ  
H01258                                                             
名称    
全般てんかん及び発作性ジスキネジア
概要    
Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. It has been reported that a mutation of the alpha subunit of the BK channel causes a syndrome of coexistent epilepsy and paroxysmal dyskinesia, which is called generalized epilepsy and paroxysmal dyskinesia (GEPD).
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
    H01258  全般てんかん及び発作性ジスキネジア
パスウェイ 
hsa04022  cGMP-PKG signaling pathway
hsa04270  Vascular smooth muscle contraction
病因遺伝子 
KCNMA1 [HSA:3778] [KO:K04936]
リンク   
ICD-11: 8A61.2Y
MeSH: C563719
OMIM: 609446
文献    
  著者
Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Luders HO, Shi J, Cui J, Richerson GB, Wang QK
  タイトル
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.
  雑誌
Nat Genet 37:733-8 (2005)
DOI:10.1038/ng1585
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