Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

@article{Joensuu2007CystatinBM,
  title={Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients},
  author={Tarja Joensuu and Mervi Kuronen and Kirsi Alakurtti and Saara Tegelberg and Paula Hakala and Antti P. Aalto and Laura Huopaniemi and Nina Aula and Roberto Michellucci and Kai Eriksson and A E Lehesjoki},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={185-193}
}
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. An unstable expansion of a dodecamer repeat in the CSTB promoter accounts for the majority of EPM1 disease alleles worldwide. We here describe a novel PCR protocol for detection of the dodecamer repeat expansion. We describe two novel EPM1-associated mutations, c.149G>A… CONTINUE READING