Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

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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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 6
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-100859
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.391-399
  • Hacettepe University Affiliated: Yes

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.