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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Authors:Thomas   D. Cushion,Alex   R. Paciorkowski,Daniela   T. Pilz,Jonathan   G.L. Mullins,Laurie   E. Seltzer,Robert   W. Marion,Emily Tuttle,Dalia Ghoneim,Susan   L. Christian,Seo-Kyung Chung,Mark   I. Rees,William   B. Dobyns
Affiliation:1 Neurology and Molecular Neuroscience Research Group, Institute of Life Science, College of Medicine, Swansea University, Swansea SA2 8PP, UK;2 Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA;3 Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14641, USA;4 Center for Neural Development & Disease, University of Rochester Medical Center, Rochester, NY 14642, USA;5 Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK;6 Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea SA2 8PP, UK;7 The Children’s Hospital at Montefiore, Bronx, NY 10467-2403, USA;8 Center for Integrative Brain Research, Seattle Children’s Hospital, Seattle, WA 98101, USA;9 Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98195, USA
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