Georg-Christoph Korenke

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

‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Lysa Boissé Lomax, Marta A. Bayly, Helle Hjalgrim et al. · Brain · 2013 · 82 citations

Medicine, Genetics, Neurology +15

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

A Müller, Ingo Helbig, C. Jansen et al. · European Journal of Paediatric Neurology · 2015 · 71 citations

Medicine, Pharmacology, Pharmacotherapy +13

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Stefanie Spiegler, Juliane Najm, Jian Liu et al. · Molecular Genetics & Genomic Medicine · 2014 · 71 citations · Full text

Life Sciences, Genetics, Neurology +16

Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton et al. · Science Translational Medicine · 2022 · 41 citations · Full text

Medicine, Molecular Genetics, Pathobiology +14