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A previous study implicated <jats:italic>CACNA1H<\/jats:italic> encoding for Ca<jats:sub>v<\/jats:sub>3.2 calcium channels as a susceptibility gene in ALS. In the present study, two heterozygous <jats:italic>CACNA1H<\/jats:italic> variants were identified by whole genome sequencing in a small cohort of ALS patients. These variants were functionally characterized using patch clamp electrophysiology, biochemistry assays, and molecular modeling. A previously unreported c.454GTAC\u2009&gt;\u2009G variant produced an inframe deletion of a highly conserved isoleucine residue in Ca<jats:sub>v<\/jats:sub>3.2 (p.\u0394I153) and caused a complete loss-of-function of the channel, with an additional dominant-negative effect on the wild-type channel when expressed in <jats:italic>trans<\/jats:italic>. In contrast, the c.3629C\u2009&gt;\u2009T variant caused a missense substitution of a proline with a leucine (p.P1210L) and produced a comparatively mild alteration of Ca<jats:sub>v<\/jats:sub>3.2 channel activity. The newly identified \u0394I153 variant is the first to be reported to cause a complete loss of Ca<jats:sub>v<\/jats:sub>3.2 channel function. These findings add to the notion that loss-of-function of Ca<jats:sub>v<\/jats:sub>3.2 channels associated with rare <jats:italic>CACNA1H<\/jats:italic> variants may be risk factors in the complex etiology of ALS.<\/jats:p>","DOI":"10.1186\/s13041-020-00577-6","type":"journal-article","created":{"date-parts":[[2020,3,7]],"date-time":"2020-03-07T00:04:18Z","timestamp":1583539458000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2\u2009T-type channel activity"],"prefix":"10.1186","volume":"13","author":[{"given":"Robin N.","family":"Stringer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bohumila","family":"Jurkovicova-Tarabova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Haji-Ghassemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romane","family":"Idoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Liashenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana A.","family":"Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuriy","family":"Rzhepetskyy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubica","family":"Lacinova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Van Petegem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald W.","family":"Zamponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Pamphlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"issue":"7","key":"577_CR1","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s10654-018-0392-x","volume":"33","author":"B Marin","year":"2018","unstructured":"Marin B, Fontana A, Arcuti S, Copetti M, Boum\u00e9diene F, Couratier P, et al. 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Nucleic Acids Res. 2018;46(W1):W296\u2013303.","journal-title":"Nucleic Acids Res"}],"container-title":["Molecular Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13041-020-00577-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13041-020-00577-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13041-020-00577-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T08:10:19Z","timestamp":1650528619000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularbrain.biomedcentral.com\/articles\/10.1186\/s13041-020-00577-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,6]]},"references-count":47,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["577"],"URL":"https:\/\/doi.org\/10.1186\/s13041-020-00577-6","relation":{},"ISSN":["1756-6606"],"issn-type":[{"value":"1756-6606","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,6]]},"assertion":[{"value":"25 November 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The whole genome sequencing of white blood cell DNA that gave rise to the finding of the genetic variants further characterised in the present study was undertaken by RP in a joint University of Sydney (Australia) and the Genome Institute Washington University (St Louis, USA) project using DNA samples from the Australian Motor Neuron Disease DNA Bank, with approval from the Sydney South West Area Health Service Human Research Ethics Committee. Informed written consent was obtained from each individual for their DNA to be used for research purposes.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"33"}}