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 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
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)
