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Title:

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

Document type:
Journal Article; Article
Author(s):
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
Abstract:
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 important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeli...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2017
Journal volume:
101
Journal issue:
6
Pages contribution:
1013-1020
Language:
eng
Fulltext / DOI:
doi:10.1016/j.ajhg.2017.11.004
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29220673
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik
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