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Article

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.

Human genetics - 1 Feb 2022

Hamanaka Kohei, Miyoshi Keita, Sun Jia-Hui, Hamada Keisuke, Komatsubara Takao, Saida Ken, Tsuchida Naomi, Uchiyama Yuri, Fujita Atsushi, Mizuguchi Takeshi, Gerard Benedicte, Bayat Allan, Rinaldi Berardo, Kato Mitsuhiro, Tohyama Jun, Ogata Kazuhiro, Shi Yun Stone, Saito Kuniaki, Miyatake Satoko, Matsumoto Naomichi

Abstract excerpt

GRIA3 at Xq25 encodes glutamate ionotropic receptor AMPA type 3 (GluA3), a subunit of postsynaptic glutamate-gated ion channels mediating neurotransmission. Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in male individuals. Here, we report a gain-of-function (GOF) variant at GRIA3 in a male patient. We identified a hemizygous de novo missense variant in GRIA3 in a...

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Identifiers

PMID: 35031858
DOI: 10.1007/s00439-021-02416-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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