Christopher A. Reid

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

This study uses different fluorescent labels to distinguish distinct kinetic components of S4 movement in the spHCN channel voltage sensor.

This study creates a mouse model of mosaic Slc35a2 knockout to study its impact on cortical development and epilepsy-related traits.

This study evaluates the therapeutic potential of Org 34167, an HCN channel inhibitor, for HCN1-DEE using multiple assays, showing efficacy in reducing cation leak and seizures but with side effects.

This study shows that atenolol reduces cardiac-related mortality in a genetic mouse model of SUDEP by mitigating seizure and LQTS interactions.

This study compares iPSC-derived neurons from patients with gain- and loss-of-function SCN2A variants, finding distinct electrophysiological and transcriptomic changes associated with different disease presentations.

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.

This study shows that reducing SCN2A function with an antisense oligonucleotide improves survival and behavior in a mouse model of early seizure onset DEE.

This study shows that GABA-mediated tonic inhibition differentially modulates gain in cortical interneurons based on their electrophysiological properties.