Tobias Brünger

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 gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 137 citations · Full text

Neurological Disorder, Scn1a Variants Cluster, Therapeutic Implications +18

The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas et al. · Epilepsia · 2019 · 92 citations · Full text

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 52 citations · Full text

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Tobias Brünger, Eduardo Pérez‐Palma, Ludovica Montanucci et al. · Brain · 2022 · 25 citations · Full text

Engineering, Genetics, Immunology +26