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

Autor: Bell S; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Rousseau J; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Peng H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Aouabed Z; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Priam P; Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada., Theroux JF; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Jefri M; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Tanti A; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Wu H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Kolobova I; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Silviera H; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Manzano-Vargas K; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Ehresmann S; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Hamdan FF; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Hettige N; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Zhang X; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Antonyan L; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Nassif C; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Ghaloul-Gonzalez L; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Sebastian J; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Vockley J; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Begtrup AG; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Nicholls RD; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA., Herman KC; University of California at Davis Medical Center, Section of Medical Genomics, Sacramento, CA 95817, USA., Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Al-Hertani W; Departments of Medical Genetics and Paediatrics, Cumming School of Medicine, Alberta Children's Hospital and University of Calgary, Calgary, AB T3B 6A8, Canada., Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Makita Y; Education Center, Asahikawa Medical University, Asahikawa 078-8510, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Østern R; Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Hafström M; Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Nelson D; McGill University, Department of Human Genetics, Montreal, QC H3G 0B1, Canada., Goldstein A; Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK., van Gils J; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France., Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France., Delorme R; Assistance Publique Hôpitaux de Paris (APHP), Robert Debré Hospital, Child and Adolescent Psychiatry Department, Paris, France., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Martinez JE; Children's Rehabilitation Service, Mobile, AL 36604, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Carmant L; Children's Rehabilitation Service, Mobile, AL 36604, USA., Lortie A; Department of Neurology, University of Montreal, Montreal, QC, Canada., Oegema R; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Mehta SG; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Huhle D; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany., Martin S; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany., Brunner HG; 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., Lindhout D; Department of Genetics, University Medical Center Utrecht, Utrecht & Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands., Au M; Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA., Graham JM Jr; Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA., Coubes C; 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., Turecki G; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Gravel S; Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Mechawar N; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada., Rossignol E; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud JL; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Lessard J; Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada., Ernst C; Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada. Electronic address: carl.ernst@mcgill.ca., Campeau PM; CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 815-834. Date of Electronic Publication: 2019 Apr 25.