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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Bibliographic Details
Main Authors:	Davies, B, Brown, L, Cais, O, Watson, J, Clayton, A, Chang, V, Biggs, D, Preece, C, Hernandez-Pliego, P, Krohn, J, Bhomra, A, Twigg, S, Rimmer, A, Kanapin, A, WGS500 Consortium, Sen, A, Zaiwalla, Z, McVean, G, Foster, R, Donnelly, P, Taylor, J, Blair, E, Nutt, D, Aricescu, A, Greger, I, Peirson, S, Flint, J, Martin, H
Format:	Journal article
Language:	English
Published:	Oxford University Press 2017

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

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