Progressive Myoclonus Epilepsies

State of the art

Progressive myoclonus epilepsy strikes healthy

children and has a slow yet devastating impact upon

their lives. Almost all forms are caused by single

gene defects, the majority of which were identified

during the genomic era.

Accurate clinical diagnosis is now straightforward and

research into pathogenesis builds upon our understanding

of causation. Future research is likely to lead to new

therapeutic approaches while providing us with a better

understanding of how the brain, the very essence of our

being, operates, gene by gene. As we stand on the cusp of

the post-genomic era, the emergence of unprecedented

new tools, such as CRISPR and adeno-associated viruses,

offers hope that these monogenetic diseases may one day

be eliminated altogether.

This book outlines the genetic, pathogenetic, pathological,

and clinical aspects of progressive myoclonus epilepsies

within the context of the post-genomic era.