BMJ Publishing Group, Journal of Medical Genetics, 6(49), p. 391-399
DOI: 10.1136/jmedgenet-2012-100859
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The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background.