Tilman Polster

Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

This study characterizes SCN1A gain-of-function variants and models their impact on interneuron hyperexcitability and network instability through homeostatic plasticity in early-onset epileptic encephalopathies.

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

The paper identifies a chromosomal duplication of chromosome 1q in a subset of polymicrogyria patients, associated with specific clinical features and distinct DNA methylation patterns.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.