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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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