Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.
Department of Pediatric Neurology, Children's and Adolescents’ Hospital Datteln, Witten/Herdecke University, Germany.
UF6254 Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, FHU translad, Génétique des Anomalies du Développement, INSERM UMR 1231, Université de Bourgogne-Franche Comté, Dijon, France.
Centre de Génétique et Centre de référence des Maladies rare, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, France.
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia ; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Biology Department, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA ; Rady Children’s Institute for Genomic Medicine, San Diego, La Jolla, CA, USA.
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden ; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden ; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden ; Neuropediatric Unit, Department of Women’s and Children’s Health, Karolinska University Hospital, Stockholm, Sweden.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden ; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Iran ; Palindrome, Isfahan, Iran.
Dr. Seyedhassani Medical Genetic Center, Yazd, Iran.
Dr. Seyedhassani Medical Genetic Center, Yazd, Iran.
Alexandria University Children’s Hospital, Faculty of Medicine, Alexandria University, Egypt.
Alexandria University Children’s Hospital, Faculty of Medicine, Alexandria University, Egypt.
Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, Saint-Étienne, France.
Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, Saint-Étienne, France.
UCL Queen Square Institute of Neurology, University College London, UK.
UCL Queen Square Institute of Neurology, University College London, UK.
Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran ; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Belgium.
Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy ; Telethon Institute of Genetics and Medicine, Naples, Italy.
Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
Child Neurology Unit, Department of Translational Medical Science, University of Naples Federico II, Naples, Italy.
Telethon Institute of Genetics and Medicine, Naples, Italy ; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Italy.
Division of Clinical Studies, The Persian Gulf Nuclear Medicine Research Center, Bushehr University of Medical Sciences, Iran.
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Institute of Human Genetics, University of Leipzig Medical Center, Germany ; Center for Rare Diseases, University of Leipzig Medical Center, Germany.
Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Institute of Human Genetics, University of Leipzig Medical Center, Germany.
MRC London Institute of Medical Sciences, UK ; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, UK ; .
UCL Queen Square Institute of Neurology, University College London, UK.
Institute of Human Genetics, University of Leipzig Medical Center, Germany.
Cell Press , 2022. Vol. 109, no 8, p. 1421-1435
Acetylcholinesterase, Animals, Drosophila melanogaster, Epilepsy, Loss of Heterozygosity, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, animal, genetics, heterozygosity loss, mental disease, nervous system malformation
Correspondence: andre.brown@lms.mrc.ac.uk (A.E.X.B.), konrad.platzer@medizin.uni-leipzig.de (K.P.)
We thank all families that participated in this study. This project has received funding from the European Research Council under the European External Action Service Horizon 2020 Research and Innovation Program (grant agreement no. 714853) and was supported by the Medical Research Council through grant MC-A658-5TY30. H.T. was supported by the European External Action Service Seventh Framework Programme for research, technological development, and demonstration under grant agreement no. 608473.