KEGG   DISEASE: Unverricht-Lundborg disease
Entry
H01995                      Disease                                

Name
Unverricht-Lundborg disease;
Epilepsy, progressive myoclonic 1
  Supergrp
Progressive myoclonic epilepsy [DS:H00810]
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H01995  Unverricht-Lundborg disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H01995  Unverricht-Lundborg disease
Gene
CSTB [HSA:1476] [KO:K13907]
Other DBs
ICD-11: 8A61.41
ICD-10: G40.3
MeSH: D020194
OMIM: 254800
Reference
PMID:8596935
  Authors
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
  Title
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
  Journal
Science 271:1731-4 (1996)
DOI:10.1126/science.271.5256.1731
Reference
  Authors
Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
  Title
Clinical picture of EPM1-Unverricht-Lundborg disease.
  Journal
Epilepsia 49:549-56 (2008)
DOI:10.1111/j.1528-1167.2008.01546.x

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