A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.
BMC Med Genet 2017 Oct 6;18(1):110. Epub 2017 Oct 6.
Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province, People's Republic of China.