A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Lignende værker

• Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
  af: Zhan, Feixia, et al.
  Udgivet: (2020)
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
  af: Chung, Seo-Kyung, et al.
  Udgivet: (2010)
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
  af: Elmslie, F V, et al.
  Udgivet: (1996)
• GLRA1 mutation and long-term follow-up of the first hyperekplexia family
  af: Paucar, Martin, et al.
  Udgivet: (2018)
• Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
  af: Horváth, Emese, et al.
  Udgivet: (2014)