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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.49, sa.6, ss.391-399, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/jmedgenet-2012-100859
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.391-399
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.