Jean‐Marc DeKeyser

The paper investigates functional properties of KCNH1 variants linked to neurodevelopmental disorders, finding most exhibit gain-of-function characteristics.

This study identifies a uORF in KCNQ2 that represses translation and shows that disrupting it enhances protein expression, with implications for disease and therapy.

The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.

This study investigates the distinct roles of NaV1.2 and NaV1.6 in neocortical pyramidal cell excitability using inhibitors and genetic modifications to selectively block each isoform.

This study creates a new mouse model of AHC with the p.G947R ATP1A3 variant, showing motor dysfunction, seizures, and other neurological traits.

This study examines how alternative splicing and cellular context affect the functional properties of SCN8A variants associated with neurodevelopmental disorders.

The paper assesses functional properties of SCN2A variants using automated patch clamp recording, revealing complex gain- and loss-of-function patterns beyond a simple binary classification.

The paper identifies cryptic prokaryotic promoters causing instability of human NaV channel cDNA in bacteria and presents stabilized plasmids for functional expression.

The paper evaluates a novel SCN2A variant linked to early-onset epilepsy, showing it causes gain-of-function effects and responds to carbamazepine.

This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.