Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; TOPÇU, MERAL; GÖKBEN, SARENUR; Alehan, Fusun; Lemke, Johannes; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina

doi:10.1136/jmedgenet-2012-100859

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

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, Scopus)

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
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
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.