The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Autor: Qebibo L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Davakan A; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France., Nesson-Dauphin M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Boulali N; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France., Siquier-Pernet K; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Afenjar A; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, Necker Enfants Malades University Hospital, APHP, Paris, France., Bartholdi D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Switzerland., Barth M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France., Blondiaux E; Department of Radiology, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris, France., Cristian I; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., Goldenberg A; Université Rouen Normandie, INSERM U1245, CHU de Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Salussolia CL; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, USA., McCullagh H; Leeds Teaching Hospitals NHS Trust, Leeds, UK., McDonald K; Department of Pediatrics, University of Louisville, Norton Children's Hospital, Louisville, USA., McRae A; Ann & Robert H. Lurie Children's Hospital of Chicago, USA., Morrison J; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospitals Network and University of New South Wales, Sydney, Australia., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, USA., Toutain A; Unité fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire, 37044, Tours, France., Vyhnálková E; Charles University, Motol University Hospital, Prague, Czech Republic., Wheeler PG; Arnold Palmer Hospital for Children, Orlando Health, Florida, USA., Wilnai Y; Tel Aviv Sourasky Medical Center, Genetic Institute, Tel Aviv, Israel., Hausman-Kedem M; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Center and Faculty of Medical and Health Science, Tel-Aviv University, Tel-Aviv, Israel., Coolen M; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France., Cantagrel V; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France. Electronic address: vincent.cantagrel@inserm.fr., Burglen L; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Reference Center for Cerebellar Malformations and Congenital Diseases, Armand-Trousseau Hospital, APHP. Sorbonne Université, Paris, France; Université Paris Cité, INSERM UMR1163, Imagine Institute, Developmental Brain Disorders, Laboratory, 75015, Paris, France. Electronic address: lydie.burglen@aphp.fr., Lory P; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France. Electronic address: philippe.lory@igf.cnrs.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec 12, pp. 101337. Date of Electronic Publication: 2024 Dec 12.