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A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.

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Title: A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.
Authors: Stringer RN; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.; Third Faculty of Medicine, Charles University, Prague, Czech Republic., Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia., Huang S; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada., Haji-Ghassemi O; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada., Idoux R; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic., Liashenko A; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic., Souza IA; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada., Rzhepetskyy Y; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic., Lacinova L; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia., Van Petegem F; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada., Zamponi GW; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada., Pamphlett R; Discipline of Pathology, Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia., Weiss N; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic. weiss@uochb.cas.cz.
Source: Molecular brain [Mol Brain] 2020 Mar 06; Vol. 13 (1), pp. 33. Date of Electronic Publication: 2020 Mar 06.
Publication Type: 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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  Data: A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca<subscript>v</subscript>3.2 T-type channel activity.
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  Data: <searchLink fieldCode="AU" term="%22Stringer+RN%22">Stringer RN</searchLink>; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.; Third Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Jurkovicova-Tarabova+B%22">Jurkovicova-Tarabova B</searchLink>; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia.<br /><searchLink fieldCode="AU" term="%22Huang+S%22">Huang S</searchLink>; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Haji-Ghassemi+O%22">Haji-Ghassemi O</searchLink>; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Idoux+R%22">Idoux R</searchLink>; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Liashenko+A%22">Liashenko A</searchLink>; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Souza+IA%22">Souza IA</searchLink>; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Rzhepetskyy+Y%22">Rzhepetskyy Y</searchLink>; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lacinova+L%22">Lacinova L</searchLink>; Center of Biosciences, Institute of Molecular Physiology and Genetics, Academy of Sciences, Bratislava, Slovakia.<br /><searchLink fieldCode="AU" term="%22Van+Petegem+F%22">Van Petegem F</searchLink>; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Zamponi+GW%22">Zamponi GW</searchLink>; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Pamphlett+R%22">Pamphlett R</searchLink>; Discipline of Pathology, Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Weiss+N%22">Weiss N</searchLink>; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Flemingovo nam 2, 16610, Prague, Czech Republic. weiss@uochb.cas.cz.
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  Data: <searchLink fieldCode="JN" term="%22101468876%22">Molecular brain</searchLink> [Mol Brain] 2020 Mar 06; Vol. 13 (1), pp. 33. <i>Date of Electronic Publication: </i>2020 Mar 06.
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