Eric Leguern

Biography

 Their team is interested in the genetic and physiopathological aspects of family epilepsy. Their goal is to elucidate the molecular basis of some of these forms of epilepsy and to clarify the underlying pathogenic mechanisms through the study of cellular and animal models. Family forms of epilepsy are relevant models for common forms of epilepsy by identifying key proteins involved in epileptogenesis and ictogenesis. In recent years, our team has identified the SCN1A (α1 subunits of the voltage-dependent sodium channel) and GABRG2 (γ2 subunit of the GABAA receptor) gene in families with a combination of epilepsy and febrile convulsions, PCDH19 andHCN1 in patients with epileptic encephalopathy, Dravet's syndrome and DEPDC5 in focal familial epilepsies. They are continuing our genetic work on 1 / epileptic encephalopathies, particularly Dravet syndrome, 2 / autosomal dominant focal epilepsies, 3 / generalized epilepsies with febrile convulsions, and 4 / autosomal recessive forms of juvenile myoclonic epilepsy and epilepsy-absence of the child. To identify new genes, our approach combines linkage analyzes and homozygosity mapping with whole exome sequencing techniques. In a second step, we determine the mutation spectrum, establish phenotype-genotype correlations and study the functional consequences of mutations in cellular systems.

Research Interest

 genetic and physiopathological aspects of family epilepsy.