Sarah Weckhuysen

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

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls et al. · Annals of Neurology · 2011 · 494 citations

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler et al. · Nature Genetics · 2013 · 436 citations

Neurobiology Of Disease, Neurophysiology, Genetics +10

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan et al. · Acta Neuropathologica · 2019 · 352 citations · Full text

De novo variants in neurodevelopmental disorders with epilepsy

Henrike Heyne, Tarjinder Singh, Hannah Stamberger et al. · Nature Genetics · 2018 · 306 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Neurology +5