GLRA1 encodes the alpha-1 subunit of glycine-gated chloride channels, which play a crucial role in inhibitory neurotransmission by down-regulating neuronal excitability 1. The protein functions as a subunit of heteromeric glycine receptors that mediate chloride influx in response to glycine binding, contributing to the generation of inhibitory postsynaptic currents in the central nervous system 1. GLRA1 is most clinically significant as the primary cause of hereditary hyperekplexia, a rare neurogenetic disorder characterized by excessive startle responses, neonatal hypertonia, and generalized stiffness 12. Mutations in GLRA1 account for the majority of hyperekplexia cases, with both autosomal dominant and recessive inheritance patterns observed 13. The disorder can present as 'major' hyperekplexia with severe neonatal symptoms or 'minor' forms with milder startle phenotypes 2. Importantly, GLRA1-related hyperekplexia is not always benign, as neurodevelopmental issues including intellectual disability occur in approximately one-third of patients, with more severe outcomes observed in homozygous individuals 13. Early diagnosis is crucial as the condition can be misdiagnosed as epilepsy but requires different therapeutic approaches 3.