ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Autor: Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA., Tossing G; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Mulroe F; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Simmons C; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Greenwood Genetics Center, Greenwood, SC, USA., Schreiber A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Alsadah A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Neilson DE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Wedell A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Wredenberg A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burghel GJ; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Menendez B; UI Health, Chicago, IL, USA., Hoganson GE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Aledo-Serrano Á; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Gil-Nagel A; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Tatton-Brown K; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., Aleck KA; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Fazenbaker AC; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Balciuniene J; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garber K; Department of Human Genetics, Emory University, Atlanta, GA, USA., Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Duno M; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Hoei-Hansen CE; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., van Hirtum-Das M; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Whitney A; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Douglas AGL; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Tao JX; Department of Neurology, University of Chicago, Chicago, IL, USA., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Baines RA; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Warwicker J; School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK., Parker JA; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Banka S; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1357-1372.

Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease.

Autor: Wong JC; Department of Human Genetics, Emory University, Atlanta, GA, United States., Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, United States.; Greenwood Genetic Center, Greenwood, SC, United States., Shapiro L; Department of Human Genetics, Emory University, Atlanta, GA, United States., Thelin JT; Department of Human Genetics, Emory University, Atlanta, GA, United States., Mattison KA; Department of Human Genetics, Emory University, Atlanta, GA, United States., Garber KB; Department of Human Genetics, Emory University, Atlanta, GA, United States., Goldenberg PC; Department of Pediatrics and Medical Genetics, Harvard Medical School, Boston, MA, United States., Kubendran S; Department of Pediatrics, Kansas University School of Medicine-Wichita, Wichita, KS, United States., Schaefer GB; University of Arkansas for Medical Sciences, Little Rock, AR, United States., Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, United States.

Publikováno v: Frontiers in pharmacology [Front Pharmacol] 2021 Nov 17; Vol. 12, pp. 748415. Date of Electronic Publication: 2021 Nov 17 (Print Publication: 2021).