Article
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
American journal of human genetics - 1 Feb 1997
Lalioti M D, Mirotsou M, Buresi C, Peitsch M C, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis S E
Abstract excerpt
Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was mapped to within 0.3 cM from PFKL in chromosome 21q22.3. The gene for the proteinase inhibitor cystatin B was recently localized in the EPM1 critical region, and mutations were identified in two EPM1 families. We have identified six...
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