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Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.

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Title: Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
Authors: Kurganov E; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Cui L; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Budnik N; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Chen S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA., Olivares E; Department of Neuroscience, University of Texas at San Antonio, San Antonio, TX 78249, USA., Baez-Nieto D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Asan AS; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Lusk L; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Smith L; Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA., Jo S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Marques D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Nehme R; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA., Mullegama SV; GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Lindy A; GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA., George AL Jr; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Poduri A; Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA., Helbig I; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Daly M; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA., Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
Source: Science translational medicine [Sci Transl Med] 2025 Dec 10; Vol. 17 (828), pp. eadr0024. Date of Electronic Publication: 2025 Dec 10.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Kurganov+E%22">Kurganov E</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Cui+L%22">Cui L</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Budnik+N%22">Budnik N</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Chen+S%22">Chen S</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.<br /><searchLink fieldCode="AU" term="%22Olivares+E%22">Olivares E</searchLink>; Department of Neuroscience, University of Texas at San Antonio, San Antonio, TX 78249, USA.<br /><searchLink fieldCode="AU" term="%22Baez-Nieto+D%22">Baez-Nieto D</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Asan+AS%22">Asan AS</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Lusk+L%22">Lusk L</searchLink>; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Smith+L%22">Smith L</searchLink>; Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Jo+S%22">Jo S</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Marques+D%22">Marques D</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Nehme+R%22">Nehme R</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Lindy+A%22">Lindy A</searchLink>; GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22George+AL+Jr%22">George AL Jr</searchLink>; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Daly+M%22">Daly M</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.<br /><searchLink fieldCode="AU" term="%22Pan+JQ%22">Pan JQ</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
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  Data: <searchLink fieldCode="JN" term="%22101505086%22">Science translational medicine</searchLink> [Sci Transl Med] 2025 Dec 10; Vol. 17 (828), pp. eadr0024. <i>Date of Electronic Publication: </i>2025 Dec 10.
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