Ulrike B. S. Hedrich

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal model

This study shows that SynTEF1 restores FGF14 expression and neuronal function in SCA27B patient-derived neurons.

Scorpion toxin peptide BMK86-P1 achieves mutation-reversible inhibition of KCNA2 at the cost of reduced efficacy in heteromers and murine neurons

The paper demonstrates that the scorpion toxin BMK86-P1 selectively inhibits KV1.2 homomers but not heteromers, with a mutation reducing its efficacy and altering channel activation.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

Axonopathy and altered synaptic development in early hippocampal epileptogenesis of Dravet syndrome

This study uses single-cell RNA sequencing in a Dravet syndrome mouse model to identify early transcriptomic changes and axonopathy in interneurons during epileptogenesis.

Endogenous but not sensory-driven activity controls migration, morphogenesis and survival of adult-born neurons in the mouse olfactory bulb

Loss or Gain of Function? Neuronal Firing Effects of Ion Channel Mutations Depend on Cell Type

The paper uses computational models to show that ion channel mutations affect neuronal firing differently across cell types, challenging the use of loss/gain of function classification for neuronal outcomes.

Learning with phenotypic similarity improves the prediction of functional effects of missense variants in voltage-gated sodium channels

The paper develops a machine learning framework that uses phenotypic similarity to predict the functional effects of missense variants in voltage-gated sodium channels, achieving high accuracy and robustness.

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

This paper develops a multi-task learning model to predict the functional effects of voltage-gated potassium channel variants, achieving improved accuracy over standard methods.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

The paper identifies FGF12 variants linked to DEE and ASD and shows their functional effects on NaV1.2 and NaV1.6 sodium channels, revealing complex gain- and loss-of-function changes.

Dravet variant SCN1AA1783V impairs interneuron firing predominantly by altered channel activation

This paper characterizes the functional impact of the SCN1AA1783V variant in Dravet syndrome by combining electrophysiology, computational modeling, and in vitro validation, showing impaired interneuron firing due to altered channel activation.