De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Gaelle Friocourt, Marine Tessarech, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz, Cyril Mignot, Boris Keren, Bénédicte Héron, Charlotte De Bie, Koen Van Gassen, Didier Loisel, Benoit Delorme, Steffen Syrbe, Annick Klabunde-Cherwon, Rami Abou Jamra, Meret Wegler, Bert Callewaert, Annelies Dheedene, Merzouka Zidannes-Marinnes, Agnès Guichet, Céline Bris, Patrick Van Bogaert, Florence Biquard, Guy Lenaers, Pascale Marcorelles, Claude Ferec, Bruno Gonzales, Vincent Procaccio, Antonio Vitobello, Dominique Bonneau, Annie Laquerriere, Salim Khiati, Estelle Colin · FENS Forum 2024
Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of GABAergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a h
ePoster · Neuroscience