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 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

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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 and Lemke, Johannes

ISSN:

0022-2593

Publisher:

BMJ Publishing Group

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:41

Last Modified:

17 Mar 2015 21:35

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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