KEGG   DISEASE: 急性一過性脳症
エントリ  
H02831                                                             
名称    
急性一過性脳症
概要    
Acute transient encephalopathy (ENPAT) is a novel disease characterized by recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. The patient brains displayed substantial loss of xenobiotic clearance ability. It has been reported that mutations in ABCB1 cause this disease. ABCB1 encodes a transmembrane transporter P-glycoprotein which pumps out a wide range of xenobiotic compounds from cells.
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
  神経系のその他の疾患
   8E47  脳症, 他に分類されないもの
    H02831  急性一過性脳症
病因遺伝子 
ABCB1 [HSA:5243] [KO:K05658]
リンク   
ICD-11: 8E47
OMIM: 620950
文献    
  著者
Baudou E, Lespine A, Durrieu G, Andre F, Gandia P, Durand C, Cunat S
  タイトル
Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations.
  雑誌
N Engl J Med 383:787-789 (2020)
DOI:10.1056/NEJMc1917344
文献    
  著者
Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M
  タイトル
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
  雑誌
Ann Clin Transl Neurol 7:1443-1449 (2020)
DOI:10.1002/acn3.51125
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