Katrine M. Johannesen

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 phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano et al. · Neurology · 2018 · 160 citations · Full text

Medicine, Neurology, Pediatrics +16

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 152 citations · Full text

Medicine, Genetics, Neurology +17

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal et al. · Science Translational Medicine · 2020 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17