Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss.

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Title: Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss.
Authors: Stringer RN; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic., Cmarko L; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Zamponi GW; Department of Clinical Neurosciences, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., De Waard M; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Weiss N; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.
Source: Molecular brain [Mol Brain] 2023 Sep 21; Vol. 16 (1), pp. 68. Date of Electronic Publication: 2023 Sep 21.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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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ISSN:1756-6606
DOI:10.1186/s13041-023-01058-2