The occurence of structural defects resulting from voltage-gated sodium channel gene mutation or invalidation leads to severe pathologies in man, and lethal phenotypes in animals. We analyse the structural and regulatory processeses that underlie these dysfunctions in vitro, in whole-mount tissue preparations or in organotypic brain slices. We focus on two main themes :
Cytoplasmic domains of neuronal sodium channels and their potential involvement in human epileptic syndromes, analysis of the functional consequences of sodium channel mutations in severe myoclonic epilepsy in infancy (SMEI)
Role of the Nav1.6 sodium channel in the developing neuromuscular junction using med and medJ mutant mice, and expression and role of Nav1.6 channels in oligodendrocytes and Schwann cells.
