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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

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Title: GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Authors: Yoo Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Jung J; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Lee YN; Graduate School of Medicine, Korea University, Seoul, Republic of Korea., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Cho H; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Na E; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Hong J; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim E; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Lee JS; Department of Pediatrics, Department of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Republic of Korea., Lee JS; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea., Hong C; Department of Physiology, Chosun University School of Medicine, Kwangju, Republic of Korea., Park SY; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea., Wie J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea., Miller K; Albany Medical Center, Albany, NY., Shur N; Albany Medical Center, Albany, NY., Clow C; Albany Medical Center, Albany, NY., Ebel RS; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH., DeBrosse SD; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH., Henderson LB; GeneDx, 207 Perry Parkway, Gaithersburg, MD., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD., Castaldi C; Yale Center for Genome Analysis, West Haven, CT., Tikhonova I; Yale Center for Genome Analysis, West Haven, CT., Bilgüvar K; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT., Mane S; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT., Kim KJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Hwang YS; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Lee SG; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea., So I; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea., Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Choi HJ; Department of Biological Sciences, Seoul National University College of Natural Sciences, Seoul, Republic of Korea., Seong JY; Graduate School of Medicine, Korea University, Seoul, Republic of Korea., Shin YB; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea., Jung H; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Source: Annals of neurology [Ann Neurol] 2017 Sep; Vol. 82 (3), pp. 466-478.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Yoo+Y%22">Yoo Y</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jung+J%22">Jung J</searchLink>; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+YN%22">Lee YN</searchLink>; Graduate School of Medicine, Korea University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+Y%22">Lee Y</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Cho+H%22">Cho H</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Na+E%22">Na E</searchLink>; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Hong+J%22">Hong J</searchLink>; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+E%22">Kim E</searchLink>; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JS%22">Lee JS</searchLink>; Department of Pediatrics, Department of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JS%22">Lee JS</searchLink>; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Hong+C%22">Hong C</searchLink>; Department of Physiology, Chosun University School of Medicine, Kwangju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+SY%22">Park SY</searchLink>; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Wie+J%22">Wie J</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Miller+K%22">Miller K</searchLink>; Albany Medical Center, Albany, NY.<br /><searchLink fieldCode="AU" term="%22Shur+N%22">Shur N</searchLink>; Albany Medical Center, Albany, NY.<br /><searchLink fieldCode="AU" term="%22Clow+C%22">Clow C</searchLink>; Albany Medical Center, Albany, NY.<br /><searchLink fieldCode="AU" term="%22Ebel+RS%22">Ebel RS</searchLink>; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH.<br /><searchLink fieldCode="AU" term="%22DeBrosse+SD%22">DeBrosse SD</searchLink>; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH.<br /><searchLink fieldCode="AU" term="%22Henderson+LB%22">Henderson LB</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Willaert+R%22">Willaert R</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Castaldi+C%22">Castaldi C</searchLink>; Yale Center for Genome Analysis, West Haven, CT.<br /><searchLink fieldCode="AU" term="%22Tikhonova+I%22">Tikhonova I</searchLink>; Yale Center for Genome Analysis, West Haven, CT.<br /><searchLink fieldCode="AU" term="%22Bilgüvar+K%22">Bilgüvar K</searchLink>; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT.<br /><searchLink fieldCode="AU" term="%22Mane+S%22">Mane S</searchLink>; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT.<br /><searchLink fieldCode="AU" term="%22Kim+KJ%22">Kim KJ</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Hwang+YS%22">Hwang YS</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+SG%22">Lee SG</searchLink>; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22So+I%22">So I</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lim+BC%22">Lim BC</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Choi+HJ%22">Choi HJ</searchLink>; Department of Biological Sciences, Seoul National University College of Natural Sciences, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Seong+JY%22">Seong JY</searchLink>; Graduate School of Medicine, Korea University, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Shin+YB%22">Shin YB</searchLink>; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jung+H%22">Jung H</searchLink>; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Choi+M%22">Choi M</searchLink>; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
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