title: NovelNALCNvariant: altered respiratory and circadian rhythm, anesthetic sensitivity.
abstract: The sodium leak channel, a Na+-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation inNALCN(c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (CLIFAHDD syndrome). In infancy, she manifested a reversed sleep-wake rhythm, nocturnal life-threatening respiratory rhythm disturbances with central apnea. Sevoflurane sensitivity caused respiratory depression and cardiac arrest.
authors.affiliation: Department of Pediatrics University Hospital Centre Split Split Croatia.
authors.forename: Bernarda
authors.initials: B
authors.lastname: Lozic
authors.affiliation: K.G. Jebsen Center for Diabetes Research Department of Clinical Science University of Bergen Bergen Norway; Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.
authors.forename: Stefan
authors.initials: S
authors.lastname: Johansson
authors.affiliation: Department of Diagnostic and Interventional Radiology University Hospital Centre Split Split Croatia.
authors.forename: Sanja
authors.initials: S
authors.lastname: Lovric Kojundzic
authors.affiliation: Department of Pediatrics University Hospital Centre Split Split Croatia.
authors.forename: Josko
authors.initials: J
authors.lastname: Markic
authors.affiliation: Center for Medical Genetics and Molecular Medicine Haukeland University Hospital BergenNorway; K.G. Jebsen Center for Research on Neuropsychiatric Disorders University of Bergen Bergen Norway.
authors.forename: Per Morten
authors.initials: PM
authors.lastname: Knappskog
authors.affiliation: Department of Clinical Neurological Sciences London Health Sciences Centre Western University London Ontario Canada.
authors.forename: Angelika F
authors.initials: AF
authors.lastname: Hahn
authors.affiliation: Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway.
authors.forename: Helge
authors.initials: H
authors.lastname: Boman