Hyperekplexia is a rare neurological disorder characterized by neonatal muscle stiffness and an exaggerated startle reflex to acoustic or tactile stimuli. This disorder may lead to serious consequences, including brain damage and/or sudden infant death caused by apnea episodes. Excessive startle reflexes to unexpected stimuli might persist throughout lifetime, although the severity differs from patient to patient. Till now it is recognized that many genes including GLRA1, GLRB, SLC6A5
，GPHN and
ARHGEF9) are involved in hyperekplexia (1,2,3). They all encode glycinergic neurotransmission related proteins which associated in disequilibrating excitatory and inhibitory transmission in central nervous system resulting in hyperekplexia. Some
studies
，GPHN and
ARHGEF9) are involved in hyperekplexia (1,2,3). They all encode glycinergic neurotransmission related proteins which associated in disequilibrating excitatory and inhibitory transmission in central nervous system resulting in hyperekplexia. Some
studies