Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

BACKGROUND: The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterized by myoclonus, epilepsy, and neurological deterioration. We aimed to identify the underlying gene(s) in childhood-onset PME patients with unknown molecular gene...

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Detalhes bibliográficos
Main Authors: Kousi, Maria, Anttila, Verneri, Schulz, Angela, Calafato, Stella, Jakkula, Eveliina, Riesch, Erik, Myllykangas, Liisa, Kalimo, Hannu, Topcu, Meral, Gokben, Sarenur, Alehan, Fusun, Lemke, Johannes R, Alber, Michael, Palotie, Aarno, Kopra, Outi, Lehesjoki, Anna-Elina
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773914/
https://ncbi.nlm.nih.gov/pubmed/22693283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100859
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