Jia-lue Hua1,*, Peng-fei Wang2,*, Ye-ping Song3, Meng-lei Ding4, Li-ling Wang3
...f a Chinese patient with hyperekplexia. We described the clinical feature of a 31-year-old male patient with hyperekplexia. Gene mutation was screened by whole exome sequencing. Furthermore, the plasmid containing wild type or mutant was transiently transfected into HEK293T cells. Realtime PCR and Western blotting were performed to evaluate the expression of GLRB. The distribution of GLRB was observed by immunofluorescence. ...
