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A 3\u2010year\u2010old girl, heterozygous for a de novo missense mutation in <jats:italic><jats:styled-content style=\"fixed-case\">NALCN<\/jats:styled-content><\/jats:italic> (c.956C&gt;T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus\u2010induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (<jats:styled-content style=\"fixed-case\">CLIFAHDD<\/jats:styled-content> syndrome). In infancy, she manifested a reversed sleep\u2010wake rhythm, nocturnal life\u2010threatening respiratory rhythm disturbances with central apnea. Sevoflurane sensitivity caused respiratory depression and cardiac arrest.<\/jats:p>","DOI":"10.1002\/acn3.362","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T17:25:42Z","timestamp":1476379542000},"page":"876-883","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Novel <i><scp>NALCN<\/scp><\/i> variant: altered respiratory and circadian rhythm, anesthetic sensitivity"],"prefix":"10.1002","volume":"3","author":[{"given":"Bernarda","family":"Lozic","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospital Centre Split Split Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Johansson","sequence":"additional","affiliation":[{"name":"K.G. 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