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Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

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Title: Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
Authors: Stringer RN; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic., Tang X; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria., Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.; Department of Biology, Faculty of Education, Trnava University, Trnava, Slovakia., Murphy M; Patient's Family Representative, Kansas City, Missouri, USA., Liedl KR; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria., Weiss N; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia. nalweiss@gmail.com.
Source: Molecular brain [Mol Brain] 2025 Mar 25; Vol. 18 (1), pp. 26. Date of Electronic Publication: 2025 Mar 25.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Stringer+RN%22">Stringer RN</searchLink>; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Tang+X%22">Tang X</searchLink>; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Jurkovicova-Tarabova+B%22">Jurkovicova-Tarabova B</searchLink>; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.; Department of Biology, Faculty of Education, Trnava University, Trnava, Slovakia.<br /><searchLink fieldCode="AU" term="%22Murphy+M%22">Murphy M</searchLink>; Patient's Family Representative, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Liedl+KR%22">Liedl KR</searchLink>; Department of General, Inorganic and Theoretical Chemistry, Center for Molecular Bioscience Innsbruck, University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Weiss+N%22">Weiss N</searchLink>; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia. nalweiss@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%22101468876%22">Molecular brain</searchLink> [Mol Brain] 2025 Mar 25; Vol. 18 (1), pp. 26. <i>Date of Electronic Publication: </i>2025 Mar 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101468876 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-6606 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217566606%22">17566606 </searchLink><i>NLM ISO Abbreviation: </i>Mol Brain <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13041-025-01195-w
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