Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen Mary Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Sophie Julia, Johannes R. Lemke, , Konrad Platzer
The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.
European Journal of Human Genetics · Dec 23, 2022Peer-reviewedGenetic & Genomic Medicine