Unverricht-Lundborg disease
Definition:
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.
References:
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[1]. L A Pennacchio, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science. 1996 Mar 22;271(5256):1731-4. [Content Brief]
[2]. Reetta Kälviäinen, et al. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia. 2008 Apr;49(4):549-56. [Content Brief]
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