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...

Full description

Saved in:
Bibliographic Details
Published in:J Med Genet
Main Authors: 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
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 2017
Subjects:
Neurogenetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5574393/
https://ncbi.nlm.nih.gov/pubmed/28756411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104495
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items