Fig. 2From: A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literatureThe schematic diagram shows the spanning domains (TM1-TM4) topology of GlyR α1 subunit. Mutations in the ECD, TM1, TM1-TM2 loop, TM3, TM3-TM4 loop and TM4 are more often recessive and part of a compound mutation, while those in TM2 and the TM2-TM3 loop are more likely to be dominant hereditary mutationsBack to article page