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
Full text not available from this repository.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 Simonetti, Barbara, Grunt, Sebastian, Steinlin, Maja |
ISSN: |
0013-9580 |
ISBN: |
0013-9580 |
Publisher: |
Wiley-Blackwell |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:24 |
Last Modified: |
02 Mar 2023 23:20 |
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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