De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Resource Type
Article
Authors
Tessarech, Marine ; Friocourt, Gaëlle ; Marguet, Florent ; Lecointre, Maryline ; Le Mao, Morgane ; Díaz, Rodrigo Muñoz ; Mignot, Cyril ; Keren, Boris ; Héron, Bénédicte ; De Bie, Charlotte ; Van Gassen, Koen ; Loisel, Didier ; Delorme, Benoit ; Syrbe, Steffen ; Klabunde-Cherwon, Annick ; Jamra, Rami Abou ; Wegler, Meret ; Callewaert, Bert ; Dheedene, Annelies ; Zidane-Marinnes, Merzouka ; Guichet, Agnès ; Bris, Céline ; Van Bogaert, Patrick ; Biquard, Florence ; Lenaers, Guy ; Marcorelles, Pascale ; Ferec, Claude ; Gonzalez, Bruno ; Procaccio, Vincent ; Vitobello, Antonio ; Bonneau, Dominique ; Laquerriere, Annie ; Khiati, Salim ; Colin, Estelle
Source
In Genetics in Medicine May 2024 26(5)
Subject
Language
ISSN
1098-3600