Judith Kroell-Seger

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

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Anaïs Begemann, Mario A. Acuña, Markus Zweier et al. · Molecular Medicine · 2019 · 67 citations · Full text

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

Alessandra Baumer, Heinrich Sticht, Bernhard Schmitt et al. · Neuropediatrics · 2014 · 32 citations · Full text