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Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.

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Title: Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Authors: Chen W; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.)., Tankovic A; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.)., Burger PB; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.)., Kusumoto H; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.)., Traynelis SF; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu., Yuan H; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu.
Source: Molecular pharmacology [Mol Pharmacol] 2017 Apr; Vol. 91 (4), pp. 317-330. Date of Electronic Publication: 2017 Jan 26.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0035623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-0111 (Electronic) Linking ISSN: 0026895X NLM ISO Abbreviation: Mol Pharmacol Subsets: MEDLINE
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  Data: Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Chen+W%22">Chen W</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).<br /><searchLink fieldCode="AU" term="%22Tankovic+A%22">Tankovic A</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).<br /><searchLink fieldCode="AU" term="%22Burger+PB%22">Burger PB</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).<br /><searchLink fieldCode="AU" term="%22Kusumoto+H%22">Kusumoto H</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).<br /><searchLink fieldCode="AU" term="%22Traynelis+SF%22">Traynelis SF</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu.<br /><searchLink fieldCode="AU" term="%22Yuan+H%22">Yuan H</searchLink>; Department of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu.
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        Value: 10.1124/mol.116.106781
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        Text: English
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      – TitleFull: Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
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              Text: 2017 Apr
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