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
- Rona, Sabine
- Lakshminarasimhan, Maya
- Kröll, Judith
- Dorn, Thomas
- Krämer, Günter
- Synofzik, Matthis
- Becker, Felicitas
- Weber, Yvonne G
- Lerche, Holger
- Böhm, Detlef
- Biskup, Saskia
DOIAbstract
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
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