Katia Hardies

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

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois et al. · Nature Genetics · 2014 · 195 citations

Neurobiology Of Disease, Neurological Disorder, Genetic Disorder +10

Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen et al. · Brain · 2015 · 111 citations · Full text

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen et al. · Molecular Genetics & Genomic Medicine · 2016 · 89 citations · Full text