한빛사 논문
Yeunkum Lee, PhD,1,2,* Yinhua Zhang, PhD candidate,1,2,* Jae Ryun Ryu, PhD,2,3,* Hyae Rim Kang, PhD candidate,1,2 Doyoun Kim, PhD,4 Chunmei Jin, MSc,1,2 Yoonhee Kim, MSc,1,2 Woong Sun, PhD,2,3 Kihoon Han, PhD1,2
1 Department of Neuroscience, College of Medicine, Korea University, Seoul, South Korea
2 Department of Biomedical Sciences, College of Medicine, Korea University, Seoul, South Korea
3 Department of Anatomy, College of Medicine, Korea University, Seoul, South Korea
4 Korea Research Institute of Chemical Technology, Daejeon, South Korea
*These authors contributed equally to this work.
Corresponding author : Kihoon Han
Department of Neuroscience College of Medicine, Korea University Seoul 02841, South Korea
Abstract
We read with great interest the recent article published by Nakashima et al 1 identifying de novo CYFIP2 Arg87 variants (p.Arg87Cys, p.Arg87Leu, and p.Arg87Pro) in individuals with early-onset epileptic encephalopathy using whole-exome sequencing. Soon after its publication, the p.Arg87Cys variant was also identified from independent whole-exome or -genome sequencing studies of individuals with West syndrome, 2 and with intellectual disability and seizures, 3 clearly demonstrating the association of CYFIP2 Arg87 variants with human neurological disorders.
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