Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Lemke, Johannes; Riesch, Erik; Gallati, Sabina; Bürki, Sarah Barbara; Strozzi, Susi; Goeggel, Barbara; Grunt, Sebastian and Steinlin, Maja

ISSN:

0013-9580

ISBN:

0013-9580

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:24

Last Modified:

17 Mar 2015 21:04

Publisher DOI:

10.1111/j.1528-1167.2012.03516.x

PubMed ID:

22612257

Web of Science ID:

000308442800019

Additional Information:

Lemke, Johannes R. Riesch, Erik Scheurenbrand, Tim Schubach, Max Wilhelm, Christian Steiner, Isabelle Hansen, Joerg Courage, Carolina Gallati, Sabina Buerki, Sarah Strozzi, Susi Simonetti, Barbara Goeggel Grunt, Sebastian Steinlin, Maja Alber, Michael Wolff, Markus Klopstock, Thomas Prott, Eva C. Lorenz, Ruediger Spaich, Christiane Rona, Sabine Lakshminarasimhan, Maya Kroell, Judith Dorn, Thomas Kraemer, Guenter Synofzik, Matthis Becker, Felicitas Weber, Yvonne G. Lerche, Holger Boehm, Detlef Biskup, Saskia

URI:

https://boris.unibe.ch/id/eprint/8341 (FactScience: 213867)

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