Niklas Schwarz

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 129 citations · Full text

Epileptic Encephalopathy, Signal Transduction, Developmental Biology +10

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

Niklas Schwarz, Betül Seher Uysal, Marc Welzer et al. · eLife · 2019 · 109 citations · Full text

Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures

Niklas Schwarz, Ulrike B. S. Hedrich, Hannah Schwarz et al. · Scientific Reports · 2017 · 97 citations · Full text