User: Guest  Login
Document type:
journal 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 
Title:
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. 
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:
Pages contribution:
1013-1020 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Humangenetik