De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Epilepsy Research - Tập 129 - Trang 17-25 - 2017
Kameryn M. Butler1, Cristina da Silva1,2, Yuval Shafir3, James D. Weisfeld-Adams4, John J. Alexander1,2, Madhuri Hegde1, Andrew Escayg1
1Department of Human Genetics, Emory University, Atlanta, GA 30322, United States
2EGL Genetic Diagnostics, Decatur, GA 30033, United States
3The Herman and Walter Samuelson Children's Hospital at Sinai, Division of Pediatric Neurology, Baltimore, MD 21209, United States
4Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States

Tài liệu tham khảo

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