Thomas Dorn

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch et al. · Nature Genetics · 2015 · 275 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Erin L. Heinzen, Rodney A. Radtke, Thomas Urban et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17