{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:02Z","timestamp":1781613662869,"version":"3.54.5"},"reference-count":8,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>Epileptic encephalopathy related to &lt;i&gt;CACNA1E&lt;\/i&gt; has been described as a severe neurodevelopmental disorder presenting with early-onset refractory seizures, hypotonia, macrocephaly, hyperkinetic movements, and contractures and is associated with an autosomal dominant inheritance pattern. Most pathogenic variants described to date are missense variants with a gain of function effect, and the role of haploinsufficiency has yet to be clarified. We describe 2 cases of &lt;i&gt;CACNA1E&lt;\/i&gt; encephalopathy. Notable findings include congenital contractures and movement disorders predating onset of epilepsy, particularly dystonia. We further compared the key phenotypic features depending on variant location. In conclusion, the appearance of congenital contractures, areflexia, and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic &lt;i&gt;CACNA1E&lt;\/i&gt; encephalopathy. A genotype-phenotype correlation was found between the presence of movement disorders and severe intellectual disability and the location of the variant in the &lt;i&gt;CACNA1E&lt;\/i&gt; gene. <\/jats:p>","DOI":"10.1159\/000511926","type":"journal-article","created":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T22:01:41Z","timestamp":1607637701000},"page":"25-32","source":"Crossref","is-referenced-by-count":4,"title":["Dystonia and Contractures are Potential Early Signs of &lt;b&gt;&lt;i&gt;CACNA1E&lt;\/i&gt;&lt;\/b&gt;-Related Epileptic Encephalopathy"],"prefix":"10.1159","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3835-7203","authenticated-orcid":false,"given":"Nelmar V.","family":"Ortiz Cabrera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Duat Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara","family":"Fern\u00e1ndez Garoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Bernardino Cuesta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Jim\u00e9nez Legido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica","family":"Cantar\u00edn Extremera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan J.","family":"Garc\u00eda Pe\u00f1as","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,12,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2019.2129"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177\/1535759719845324"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.006"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0143-7"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12954"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M607405200"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.03.016"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1126\/science.aad2395"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511926","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/511926","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:11:44Z","timestamp":1745424704000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000511926"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,10]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,3,2]]},"published-print":{"date-parts":[[2021,3,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000511926","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,10]]}}}