Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene


Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E., ...More

JOURNAL OF MEDICAL GENETICS, vol.49, no.6, pp.391-399, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-100859
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.391-399

Abstract

Background 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.