TY - GEN AU - Horváth,Emese AU - Farkas,Katalin AU - Herczegfalvi,Agnes AU - Nagy,Nikoletta AU - Széll,Márta TI - Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report SN - 1752-1947 PY - 2015///0407 KW - Humans KW - Infant, Newborn KW - Male KW - Mutation, Missense KW - Receptors, Glycine KW - genetics KW - Stiff-Person Syndrome N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1186/1752-1947-8-233 ER -