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...

Descripción completa

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

Internet

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

Ejemplares similares