ePoster

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(2024)
Messe Wien Exhibition & Congress Center, Vienna, Austria

Conference

FENS Forum 2024

Messe Wien Exhibition & Congress Center, Vienna, Austria

Resources

Authors & Affiliations

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

Abstract

Unique ID: fens-24-novo-variants-cause-novel-form-interneuronopathy-37feac65