KEGG   DISEASE: Unverricht-Lundborg 病
エントリ  
H01995                                                             

名称    
Unverricht-Lundborg 病;
進行性ミオクローヌスてんかん 1 型
  上位グループ
進行性ミオクローヌスてんかん [DS:H00810]
概要    
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. The mutations in the CSTB gene encoding cystatin B are responsible for this disease.
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
   H01995  Unverricht-Lundborg 病
ICD-11 による疾患分類 [BR:jp08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H01995  Unverricht-Lundborg 病
病因遺伝子 
CSTB [HSA:1476] [KO:K13907]
リンク   
ICD-11: 8A61.41
ICD-10: G40.3
MeSH: D020194
OMIM: 254800
文献    
PMID:8596935
  著者
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM
  タイトル
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
  雑誌
Science 271:1731-4 (1996)
DOI:10.1126/science.271.5256.1731
文献    
  著者
Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
  タイトル
Clinical picture of EPM1-Unverricht-Lundborg disease.
  雑誌
Epilepsia 49:549-56 (2008)
DOI:10.1111/j.1528-1167.2008.01546.x

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