Judith Kroell-Seger

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

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

S. Papuc, H. Sticht, A. Rauch, 2014, Neuropediatrics.

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

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

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

K. Yamakawa, H. Sticht, A. Rauch, 2019, Molecular medicine.

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

S. Papuc, H. Sticht, A. Rauch, 2018, European Journal of Human Genetics.

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

Heinrich Sticht, Hanns Ulrich Zeilhofer, Yushi Inoue, 2019, Molecular Medicine.