Structure-function relationships of pathogenic sodium channel variants and their correlations with clinical phenotypes

This project explores how changes in brain sodium channel proteins can lead to different types of epilepsy. By studying the functional properties of these channels, we aim to understand why some people experience more severe symptoms than others.

Neuronal sodium channels play a crucial role in the generation and propagation of action potentials.

Mutations in the genes encoding these sodium channels can result in a spectrum of epilepsies, ranging from neonatal and infantile to childhood onset. Many of these epilepsies are also associated with cognitive and behavioural impairments of varying types and severities.

Methods used in this research include patch-clamp electrophysiology, real-time neuronal modelling, and sodium channel structure analyses.