Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.
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ABSTRACT:
SUBMITTER: Lozic B
PROVIDER: S-EPMC5099533 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Publications
Novel <i>NALCN</i> variant: altered respiratory and circadian rhythm, anesthetic sensitivity.
Lozic Bernarda B Johansson Stefan S Lovric Kojundzic Sanja S Markic Josko J Knappskog Per Morten PM Hahn Angelika F AF Boman Helge H
Annals of clinical and translational neurology 20161011 11
The sodium leak channel, a Na<sup>+</sup>-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na<sup>+</sup>-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in <i>NALCN</i> (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; s ...[more]
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