Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.

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Title: Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.
Authors: Grosso BJ; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA., Kramer AA; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA., Tyagi S; Medical Scientist Training Program, Department of Neurology, Yale School of Medicine, New Haven, CT, 06520, USA., Bennett DF; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA., Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, MD, 20892, USA., Meza U; Department of Physiology and Biophysics, School of Medicine, Autonomous University of San Luis Potosí, Carranza #2405, SLP 78210, San Luis Potosí, Mexico., Bannister RA; Departments of Pathology/Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Room 208A, Baltimore, MD, 21201, USA. rbannister@som.umaryland.edu.; Center for Scientific Review, Division of Neuroscience, Development and Aging, National Institutes of Health, 6701 Rockledge Drive, Bethesda, MD, 20892, USA. rbannister@som.umaryland.edu.
Source: Scientific reports [Sci Rep] 2022 Jun 02; Vol. 12 (1), pp. 9186. Date of Electronic Publication: 2022 Jun 02.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2045-2322
DOI:10.1038/s41598-022-12789-y