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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

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作者单位: Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada. [1] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK. [2] Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada. [3] Department of Psychiatry, McGill University, Montreal, QC, Canada. [4] Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA. [5] Service de Génétique CHU de Lyon-GH Est, Lyon, France. [6] Department of Pediatrics, Flinders Medical Centre, Bedford Park, SA, Australia. [7] Department of Medical Genetics, University of Calgary, Calgary, AB, Canada. [8] Department of Pediatrics, Université de Montréal, Montreal, QC, Canada. [9] Department of Pediatrics, CHU Laval, Quebec City, QC, Canada. [10] Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA. [11] Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. [12] Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia. [13] South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia. [14] Klinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany. [15] Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom. [16] Chalfont Centre for Epilepsy, Bucks, United Kingdom. [17] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. [18] Department of Pediatrics, Université de Montréal, Montreal, QC, Canada. p.campeau@umontreal.ca. [19]
DOI 10.1038/s41436-018-0290-3
PMID 30245510
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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