Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, Nanishi E, Ono M, Yokoyama A, Arai H, Tamaura S, Suzuki Y, Otsubo S, Hayashi T, Kimura M, Kishi K, Yamaguchi S.
Mine J, et al.
Dev Med Child Neurol. 2015 Apr;57(4):372-7. doi: 10.1111/dmcn.12617. Epub 2014 Oct 30.
Dev Med Child Neurol. 2015.
PMID: 25356525
Free article.
Seven patients had been misdiagnosed with other disorders such as epilepsy and adult-onset anxiety neurosis. Umbilical/inguinal hernias were seen in 10 patients. Life-threatening events were noted in four patients. ...Mutations in the GLRA1 and GLRB genes were identified i …
Seven patients had been misdiagnosed with other disorders such as epilepsy and adult-onset anxiety neurosis. Umbilical/inguinal herni …