Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Affiliations

• ¹ Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada.
• ² CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.
• ³ Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada.
• ⁴ Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
• ⁵ GeneDx, Gaithersburg, MD 20877, USA.
• ⁶ University of California at Davis Medical Center, Section of Medical Genomics, Sacramento, CA 95817, USA.
• ⁷ Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
• ⁸ Departments of Medical Genetics and Paediatrics, Cumming School of Medicine, Alberta Children's Hospital and University of Calgary, Calgary, AB T3B 6A8, Canada.
• ⁹ Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK.
• ¹⁰ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
• ¹¹ Education Center, Asahikawa Medical University, Asahikawa 078-8510, Japan.
• ¹² Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway.
• ¹³ Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
• ¹⁴ Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
• ¹⁵ Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
• ¹⁶ McGill University, Department of Human Genetics, Montreal, QC H3G 0B1, Canada.
• ¹⁷ Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
• ¹⁸ Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
• ¹⁹ Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France.
• ²⁰ Assistance Publique Hôpitaux de Paris (APHP), Robert Debré Hospital, Child and Adolescent Psychiatry Department, Paris, France.
• ²¹ HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
• ²² Children's Rehabilitation Service, Mobile, AL 36604, USA.
• ²³ Department of Neurology, University of Montreal, Montreal, QC, Canada.
• ²⁴ Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
• ²⁵ Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.
• ²⁶ Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
• ²⁷ Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6500 GA, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
• ²⁸ Department of Genetics, University Medical Center Utrecht, Utrecht & Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.
• ²⁹ Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
• ³⁰ Service de génétique clinique, Département de génétique médicale, Maladies rares et médecine personnalisée, Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Montpellier, 34295 Montpellier Cedex 5, France.
• ³¹ Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada. Electronic address: carl.ernst@mcgill.ca.
• ³² CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.