GLRA1 Antibody

The glycine receptor (GLAR1) is a neurotransmitter-gated ion channel. Binding of glycine to GLAR1 increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Defects in GLRA1 are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.