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 d...

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Veröffentlicht in:	Human genome variation 2023-02, Vol.10 (1), p.4-4, Article 4
Hauptverfasser:	Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Taketazu, Genya, Kimura, Kayano, Fukuda, Ikue, Tanaka, Hajime, Yanagi, Kumiko, Kaname, Tadashi
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489 631/208/2489/144 Age Biomedical and Life Sciences Biomedicine Cognitive ability Convulsions & seizures Data Report Electroencephalography Encephalopathy Epilepsy Females Gene Expression Gene Function Gene Therapy Genetic counseling Genomes Genomics Genotype & phenotype Glutamic acid receptors Human Genetics Magnetic resonance imaging Molecular Medicine Mutation Neurological diseases Neurological disorders Neurotransmission Patients Pediatrics α-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid
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Zusammenfassung:	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.
ISSN:	2054-345X 2054-345X
DOI:	10.1038/s41439-023-00232-1