Stephan Lauxmann

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 · 138 citations · Full text

Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability

Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg et al. · Brain · 2018 · 129 citations · Full text

Neurological Disorder, Genetics, Synaptic Transmission +20

4-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i> -encephalopathy

Ulrike B. S. Hedrich, Stephan Lauxmann, Markus Wolff et al. · Science Translational Medicine · 2021 · 79 citations

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 58 citations · Full text

Mendelian Disorder, Female Infertility, Whole-exome Sequencing Study +9

An <scp><i>SCN2A</i></scp> mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold <scp>N</scp>a⁺ current

Stephan Lauxmann, Nadia Boutry‐Kryza, Clotilde Rivier et al. · Epilepsia · 2013 · 42 citations