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Febrile and unprovoked seizures were present in this child. Both variants were expressed in <jats:italic>cis<\/jats:italic> or isolation using human recombinant Cav3.2 calcium channels in tsA-201 cells. Whole-cell patch-clamp recordings indicated that one variant (c.3844C\u2009&gt;\u2009T; p.R1282W) caused a significant increase in current density consistent with a pathogenic gain-of-function phenotype; while the other <jats:italic>cis<\/jats:italic>-related variant (c.5294C\u2009&gt;\u2009T; p.A1765V) had a benign profile.<\/jats:p>","DOI":"10.1186\/s13041-019-0509-5","type":"journal-article","created":{"date-parts":[[2019,10,25]],"date-time":"2019-10-25T17:11:11Z","timestamp":1572023471000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy"],"prefix":"10.1186","volume":"12","author":[{"given":"Ivana A.","family":"Souza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria A.","family":"Gandini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang-Xiong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy G.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Lerner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tyler Mark","family":"Pierson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-9066","authenticated-orcid":false,"given":"Gerald W.","family":"Zamponi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,10,24]]},"reference":[{"key":"509_CR1","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1080\/19336950.2016.1238992","volume":"11","author":"N Leresche","year":"2017","unstructured":"Leresche N, Lambert RC. 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