Fig. 1. The family pedigrees with a diagnosis of hyperekplexia. The family trees, the chromatograms and the mutations located in the highly-conserved region of proteins are shown from left to right respectively. A: Homogenous GLRA1 c.754delC (p.L252*) identified in the two siblings (IV:1 and IV:3), their asymptomatic mother (III:2) is a heterozygous carrier. B: Homogenous GLRA1 c.1286T>A (p.I429N) identified in the proband and his younger brother (II:1 and II:4), his asymptomatic sister and son are heterozygous mutation carriers (II:2 and III:1).
