Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
Lina SamiMathilde ChipauxSarah Ferrand-SorbetsMarion DoladilheChristine BulteauEmmanuel RaffoSarah RosenbergGeorg DorfmullerRayann ChecriJean-Madeleine de Sainte AgatheEric Le GuernHoma Adle-BiassetteSara BaldassariStephanie BaulacPublished in: Neurology. Genetics (2024)
as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism in epilepsy disorders and underscores the critical role of genetic diagnosis derived from resected brain tissue.