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  3. Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Details
Publisher DOI
10.1111/j.1528-1167.2012.03516.x
PubMed ID
22612257
Abstract
Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks.
Date Issued
2012
Publication Type
Article
Language(s)
en
Author(s)
Lemke, Johannes  
Universitätsklinik für Kinderheilkunde  
Riesch, Erik  
Universitätsklinik für Kinderheilkunde  
Scheurenbrand, Tim
Schubach, Max
Wilhelm, Christian
Steiner, Isabelle
Hansen, Jörg
Courage, Carolina
Gallati, Sabina  orcid-logo
Universitätsklinik für Kinderheilkunde  
Bürki, Sarah Barbara
Universitätsklinik für Kinderheilkunde  
Strozzi, Susi  
Universitätsklinik für Kinderheilkunde  
Goeggel Simonetti, Barbara  
Universitätsklinik für Neurologie  
Grunt, Sebastian  
Universitätsklinik für Kinderheilkunde  
Steinlin, Maja  
Universitätsklinik für Kinderheilkunde  
Alber, Michael
Wolff, Markus
Klopstock, Thomas
Prott, Eva C
Lorenz, Rüdiger
Spaich, Christiane
Rona, Sabine
Lakshminarasimhan, Maya
Kröll, Judith
Dorn, Thomas
Krämer, Günter
Synofzik, Matthis
Becker, Felicitas
Weber, Yvonne G
Lerche, Holger
Böhm, Detlef
Biskup, Saskia
Additional Credits
Universitätsklinik für Kinderheilkunde  
Universitätsklinik für Neurologie  
Journal
Epilepsia
Publisher
Wiley-Blackwell
ISSN
0013-9580
ISBN
0013-9580
Access(Rights)
metadata.only
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