Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

The American Journal of Human Genetics - Tập 99 - Trang 1359-1367 - 2016
Chanshuai Han1, Reem Alkhater2, Tawfiq Froukh3, Arakel G. Minassian4, Melissa Galati1, Rui Han Liu1, Maryam Fotouhi1, Julia Sommerfeld5, Ayman J. Alfrook6, Christian Marshall4, Susan Walker4, Peter Bauer5, Stephen W. Scherer4,7, Olaf Riess5, Rebecca Buchert5, Berge A. Minassian8, Peter S. McPherson1
1Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada
2Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia
3Department of Biotechnology and Genetic Engineering, Faculty of Science, Philadelphia University, Amman 11118, Jordan
4Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 0A4, Canada
5Institute of Medical Genetics and Applied Genomics, Rare Disease Center, University of Tübingen, Tübingen 72076, Germany
6Private clinic, Amman 11118, Jordan
7Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada
8Program in Genetics and Genome Biology, Department of Pediatrics (Neurology), Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada

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