Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K, Miyoshi K, Sun JH, Hamada K, Komatsubara T, Saida K, Tsuchida N, Uchiyama Y, Fujita A, Mizuguchi T, Gerard B, Bayat A, Rinaldi B, Kato M, Tohyama J, Ogata K, Shi YS, Saito K, Miyatake S, Matsumoto N.
Hamanaka K, et al. Among authors: sun jh.
Hum Genet. 2022 Feb;141(2):283-293. doi: 10.1007/s00439-021-02416-7. Epub 2022 Jan 15.
Hum Genet. 2022.
PMID: 35031858