Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

BACKGROUND: Microdeletions are known to confer risk to epilepsy, particularly at genomic rearrangement ‘hotspot’ loci. However, microdeletion burden not overlapping these regions or within different epilepsy subtypes has not been ascertained. OBJECTIVE: To decipher the role of microdeletions outside...

Descripción completa

Detalles Bibliográficos
Autores principales: Pérez-Palma, Eduardo, Helbig, Ingo, Klein, Karl Martin, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig, Ganna, Andrea, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R, Saarentaus, Elmo, Howrigan, Daniel P, Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Neubauer, Bern A, Becker, Albert J, Rosenow, Felix, Perucca, Emilio, Zara, Federico, Weber, Yvonne G, Lal, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574393/
https://www.ncbi.nlm.nih.gov/pubmed/28756411
http://dx.doi.org/10.1136/jmedgenet-2016-104495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574393/
https://www.ncbi.nlm.nih.gov/pubmed/28756411
http://dx.doi.org/10.1136/jmedgenet-2016-104495

Ejemplares similares