Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy

Amaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J.

http://hdl.handle.net/10400.18/1085

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Abstract(s)

Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease.