Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia

Journal Title: International Neuropsychiatric Disease Journal - Year 2014, Vol 2, Issue 1

Abstract

Aim: 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.

Authors and Affiliations

Tamer Mohamed Rizk, Adel Ahmed Hassan Mahmoud

Keywords

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  • EP ID EP241442
  • DOI 10.9734/INDJ/2014/5368
  • Views 142
  • Downloads 0

How To Cite

Tamer Mohamed Rizk, Adel Ahmed Hassan Mahmoud (2014). Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia. International Neuropsychiatric Disease Journal, 2(1), 21-27. https://europub.co.uk/articles/-A-241442