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. |
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| 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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