Scott K. Adney

This study creates a mouse model of SCN2A-related DEE and shows it exhibits neuronal hyperexcitability, seizure susceptibility, and responsiveness to phenytoin.

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