Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Por Lalioti, M D, Mirotsou, M, Buresi, C, Peitsch, M C, Rossier, C, Ouazzani, R, Baldy-Moulinier, M, Bottani, A, Malafosse, A, Antonarakis, S E
Publicado em 1997

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Por Lalioti, M D, Scott, H S, Genton, P, Grid, D, Ouazzani, R, M'Rabet, A, Ibrahim, S, Gouider, R, Dravet, C, Chkili, T, Bottani, A, Buresi, C, Malafosse, A, Antonarakis, S E
Publicado em 1998