Gaëtan Lesca

WHOLE-GENOME SEQUENCING AS A FIRST-TIER TEST FOR SCHIZOPHRENIA AND BIPOLAR DISORDER: THE FRENCH CLINICAL IMPLEMENTATION

The integration of genomic medicine into healthcare systems represents a major translational challenge. In France, the Plan France Médecine Génomique 2025 (PFMG2025) was designed to directly embed whole-genome sequencing (WGS) into routine clinical care through a nationwide infra...

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

BACKGROUND: SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican anc...