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 |
| |
Abstract: | |
| |
Keywords: | |
本文献已被 ScienceDirect 等数据库收录! |
|