{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:42Z","timestamp":1786976862133,"version":"build-2736575974"},"reference-count":44,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T00:00:00Z","timestamp":1543881600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS092898"],"award-info":[{"award-number":["K08NS092898"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    (NM_000719.6) encodes an L\u2010type calcium voltage\u2010gated calcium channel (Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome. Thus far,\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    has not been reported as a gene associated with epileptic encephalopathy and is less commonly associated with epilepsy. We report three individuals from two families with variants in\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    . Patient 1 presented with neonatal onset epileptic encephalopathy (NOEE) and was found to have a de novo missense variant in\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    (c.4087G&gt;A (p.V1363M)) on exome sequencing. In Family 2, Patient 2 presented with congenital cardiac anomalies and cardiomyopathy and was found to have a paternally inherited splice site variant, c.3717+1_3717+2insA, on a cardiomyopathy panel. Her father, Patient 3, presented with learning difficulties, late\u2010onset epilepsy, and congenital cardiac anomalies. Family 2 highlights variable expressivity seen within a family. This case series expands the clinical and molecular phenotype of\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    \u2010related disorders and highlights the need to include\n                    <jats:italic>CACNA1C<\/jats:italic>\n                    on epilepsy gene panels.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.40657","type":"journal-article","created":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T13:29:44Z","timestamp":1543930184000},"page":"2733-2739","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Expanding clinical phenotype in\n                    <i>CACNA1C<\/i>\n                    related disorders: From neonatal onset severe epileptic encephalopathy to late\u2010onset epilepsy"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3136-7393","authenticated-orcid":false,"given":"Xiuhua","family":"Bozarth","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Washington  Seattle Washington"},{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer N.","family":"Dines","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics University of Washington  Seattle Washington"},{"name":"Division of Medical Genetics, Department of Internal Medicine University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Cong","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Institution for Protein Design University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghayda M.","family":"Mirzaa","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington"},{"name":"Division of Genetic Medicine, Department of Pediatrics University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Foss","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Seattle Children's Hospital  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"II","given":"J.","family":"Lawrence Merritt","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Thies","sequence":"additional","affiliation":[{"name":"Division 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