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Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

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 in NALCN (c.956C>T; p.Ala319Val) pr...

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Detalles Bibliográficos
Autores principales:	Lozic, Bernarda, Johansson, Stefan, Lovric Kojundzic, Sanja, Markic, Josko, Knappskog, Per Morten, Hahn, Angelika F., Boman, Helge
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Brief Communications
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099533/ https://www.ncbi.nlm.nih.gov/pubmed/27844033 http://dx.doi.org/10.1002/acn3.362

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