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#36726015   2023/02/01 To Up

Structures of honeybee-infecting Lake Sinai virus reveal domain functions and capsid assembly with dynamic motions.

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Nai-Chi Chen, Chun-Hsiung Wang, Masato Yoshimura, Yi-Qi Yeh, Hong-Hsiang Guan, Phimonphan Chuankhayan, Chien-Chih Lin, Pei-Ju Lin, Yen-Chieh Huang, Soichi Wakatsuki, Meng-Chiao Ho, Chun-Jung Chen

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#36726007   2023/02/02 To Up

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

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.
Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname

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