Published in
BMJ Publishing Group, Journal of Medical Genetics, 6(49), p. 391-399
DOI: 10.1136/jmedgenet-2012-100859
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- BMJ Publishing Group
- [boris.unibe.ch]
- [hdl.handle.net]
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.researchgate.net] | PDF
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Novel mutations consolidateKCTD7as a progressive myoclonus epilepsy gene
Journal article published in 2012 by
Maria Kousi,
Verneri Anttila 
,
Angela Schulz,
Stella Calafato,
Eveliina Jakkula,
Erik Riesch,
Liisa Myllykangas,
Hannu Kalimo,
Meral Topçu,
Sarenur Gökben,
Fusun Alehan,
Johannes R. Lemke,
Michael Alber,
Aarno Palotie,
Outi Kopra
and other authors.
,
Angela Schulz,
Stella Calafato,
Eveliina Jakkula,
Erik Riesch,
Liisa Myllykangas,
Hannu Kalimo,
Meral Topçu,
Sarenur Gökben,
Fusun Alehan,
Johannes R. Lemke,
Michael Alber,
Aarno Palotie,
Outi Kopra
and other authors.
This paper is available in a repository.
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Abstract
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.