Joost Nicolai

Pediatric delirium in critical illness: phenomenology, clinical correlates and treatment response in 40 cases in the pediatric intensive care unit

Jan N. M. Schieveld, Piet Leroy, Jim van Os et al. · Intensive Care Medicine · 2007 · 196 citations · Full text

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 · 155 citations · Full text

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 151 citations

Neurological Disorder, Genetics, Spastic Paraparesis +20

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

Scn8a Mutation, Neurological Disorder, Remarkable Phenytoin Sensitivity +16

De novo gain-of-function and loss-of-function mutations of <i>SCN8A</i> in patients with intellectual disabilities and epilepsy

Maxime G. Blanchard, Marjolein H. Willemsen, Jaclyn B Walker et al. · Journal of Medical Genetics · 2015 · 139 citations · Full text