Rizk, Tamer MohamedMahmoud, Adel Ahmed Hassan2014-07-162014-07-162014-01Rizk Tamer Mohamed, Mahmoud Adel Ahmed Hassan. Novel GLRB gene mutation in a Saudi baby with hyperekplexia. International Neuropsychiatric Disease Journal. 2014 Jan-Feb 2(1): 21-27.http://imsear.searo.who.int/handle/123456789/152671Aim: We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel mutation in GLRB. Case Presentation: One month old Saudi neonate with hypertonicity, repetitive episodes of jitteriness and exaggerated startle reflex. Discussion: Hyperekplexia (OMIM:149400, 138492 & 604159) is considered a rare, autosomal dominant neurological disorder that presents early in life with hypertonicity, exaggerated startle response and life threatening neonatal apnea. It has been caused by mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB) gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5) on chromosome 11p15 which encodes a presynaptic glycine transporter. Conclusion: Raising awareness of the presence of this treatable disease may prevent unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and improve long term outcome.enStartlehyperekplexiaglycinereceptorstiff baby syndromeArticle