A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

The discovery of genetic variants influencing sleep patterns can shed light on the physiological processes underlying sleep. As part of a large clinical sequencing project, WGS500, we sequenced a family in which the two male children had severe developmental delay and a dramatically disturbed sleep-...

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Detalles Bibliográficos
Autores principales: Davies, Benjamin, Brown, Laurence A, Cais, Ondrej, Watson, Jake, Clayton, Amber J, Chang, Veronica T, Biggs, Daniel, Preece, Christopher, Hernandez-Pliego, Polinka, Krohn, Jon, Bhomra, Amarjit, Twigg, Stephen R F, Rimmer, Andrew, Kanapin, Alexander, Sen, Arjune, Zaiwalla, Zenobia, McVean, Gil, Foster, Russell, Donnelly, Peter, Taylor, Jenny C, Blair, Edward, Nutt, David, Aricescu, A Radu, Greger, Ingo H, Peirson, Stuart N, Flint, Jonathan, Martin, Hilary C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639461/
https://www.ncbi.nlm.nih.gov/pubmed/29016847
http://dx.doi.org/10.1093/hmg/ddx270

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