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Advanced filters: Author: João Massano Clear advanced filters

  • Anna-Elina Lehesjoki and colleagues report exome sequencing of 84 cases of progressive myoclonus epilepsy (PME) and targeted resequencing of an additional 28 cases. They identify de novo mutations in KCNC1 in 13 cases and mutations in genes not previously associated with PME, including PRNP, SACS and TBC1D24, in additional cases.

    • Mikko Muona
    • Samuel F Berkovic
    • Anna-Elina Lehesjoki
    Research
    Nature Genetics
    Volume: 47, P: 39-46