KEGG   DISEASE: Acute transient encephalopathy
Entry
H02831                      Disease                                
Name
Acute transient encephalopathy
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Other disorders of the nervous system
   8E47  Encephalopathy, not elsewhere classified
    H02831  Acute transient encephalopathy
Gene
ABCB1 [HSA:5243] [KO:K05658]
Other DBs
ICD-11: 8E47
OMIM: 620950
Reference
  Authors
Baudou E, Lespine A, Durrieu G, Andre F, Gandia P, Durand C, Cunat S
  Title
Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations.
  Journal
N Engl J Med 383:787-789 (2020)
DOI:10.1056/NEJMc1917344
Reference
  Authors
Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M
  Title
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
  Journal
Ann Clin Transl Neurol 7:1443-1449 (2020)
DOI:10.1002/acn3.51125
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