H01995 | |
H number | H01995 |
Name | Unverricht-Lundborg disease; Epilepsy, progressive myoclonic 1 |
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 |
Network | - |
Gene | CSTB [HSA:1476] [KO:K13907] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 PMID:18325013 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 |