Linda Laux

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

This study examines the impact of a SCN2A pathogenic variant in human neurons using electrophysiology and machine learning, showing that sodium channel blockers can restore normal function.

The paper investigates four SCN1A variants affecting the same codon, finding mixed and complete loss-of-function effects, suggesting functional diversity beyond codon position.

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.