GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
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ABSTRACT:
SUBMITTER: Okano S
PROVIDER: S-EPMC9892509 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
Okano Satomi S Makita Yoshio Y Miyamoto Akie A Taketazu Genya G Kimura Kayano K Fukuda Ikue I Tanaka Hajime H Yanagi Kumiko K Kaname Tadashi T
Human genome variation 20230202 1
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.Me ...[more]
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