Abstract

The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological disorders, primarily reported in male patients. Here, we report a female patient with developmental and epileptic encephalopathy who carries the novel de novo GRIA3 variant NM_007325.5: c.1982T > C: p.Met661Thr.

Details

Title
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Author
Okano, Satomi 1   VIAFID ORCID Logo  ; Makita, Yoshio 2   VIAFID ORCID Logo  ; Miyamoto, Akie 3 ; Taketazu, Genya 4 ; Kimura, Kayano 5 ; Fukuda, Ikue 5 ; Tanaka, Hajime 5 ; Yanagi, Kumiko 6 ; Kaname, Tadashi 6   VIAFID ORCID Logo 

1  Asahikawa Habilitation Center for Children, Department of Pediatrics, Hokkaido, Japan 
2  Asahikawa Medical University Hospital, Department of Genetic Counseling, Hokkaido, Japan (GRID:grid.252427.4) (ISNI:0000 0000 8638 2724) 
3  Asahikawa Habilitation Center for Children, Department of Pediatrics, Hokkaido, Japan (GRID:grid.252427.4) 
4  Asahikawa Kosei Hospital, Department of Pediatrics, Hokkaido, Japan (GRID:grid.413951.b) (ISNI:0000 0004 0378 0188) 
5  Asahikawa Habilitation Center for Children, Department of Pediatrics, Hokkaido, Japan (GRID:grid.413951.b) 
6  National Institute for Child Health and Development, Department of Genome Medicine, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
Pages
4
Publication year
2023
Publication date
2023
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-023-00232-1
ProQuest document ID
2771514349
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.