Marjan van Kempen

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

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

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related seizure phenotypes

Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma et al. · Epilepsia · 2018 · 160 citations · Full text

Medicine, Neurology, Neuroscience +13

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Ragna S. Boerma, Kees P. J. Braun, Maarten P.H. van de Broek et al. · Neurotherapeutics · 2015 · 150 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17

De novo mutations of <i>KIAA2022</i> in females cause intellectual disability and intractable epilepsy

Iris Lange, Katherine L. Helbig, Sarah Weckhuysen et al. · Journal of Medical Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17