Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topçu, Meral; Gökben, Sarenur; Alehan, Fusun; Lemke, Johannes R; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina (2012). Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Journal of medical genetics, 49(6), pp. 391-9. London: BMJ Publishing Group 10.1136/jmedgenet-2012-100859
Full text not available from this repository. (Request a copy)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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Riesch, Erik, Lemke, Johannes |
ISSN: |
0022-2593 |
Publisher: |
BMJ Publishing Group |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:41 |
Last Modified: |
05 Dec 2022 14:12 |
Publisher DOI: |
10.1136/jmedgenet-2012-100859 |
PubMed ID: |
22693283 |
Web of Science ID: |
000305803800007 |
URI: |
https://boris.unibe.ch/id/eprint/16547 (FactScience: 224202) |
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