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

Abstract:

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-wake cycle, with very long wake and sleep durations, reaching up to 106-h awake and 48-h asleep. The most likely causal variant identified was a novel missense variant in the X-linked GRIA3 gene, w...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddx270

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Clayton, AJ More by this author
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National Institute for Health Research More from this funder
Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
26
Issue:
20
Pages:
3869–3882
Publication date:
2017-07-05
Acceptance date:
2017-07-06
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:731303
URN:
uri:35ae438c-72ad-4843-a198-e6102808373c
UUID:
uuid:35ae438c-72ad-4843-a198-e6102808373c
Local pid:
pubs:731303
Language:
English
Keywords:

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