De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is imp...

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Bibliographic Details
Published in:Am J Hum Genet
Main Authors: Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami
Format: Artigo
Language:Inglês
Published: Elsevier 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5812909/
https://ncbi.nlm.nih.gov/pubmed/29220673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.11.004
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