Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. Issue 3 (September 2014)

• Record Type: Journal Article
• Authors: Hmami, Fouzia; Wood, Sian‐Elin; Chaouki, Sana; Oulmaati, Abdellah; Hida, Mustapha; Rees, Mark I.; Chung, Seo‐Kyung; Bouharrou, Abdelhak
• Is Part Of: Epileptic disorders. Volume 16:Issue 3(2014:Sep.)
• Page Start: 354
• Page End: 357
• Publication Date: 2014-09
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2014.0663
• Languages: English
• ISSNs: 1294-9361

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic‐clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in <italic>GLRA1</italic> resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of <italic>GLRA1</italic>‐mediated hyperekplexia. [<italic>Published with video sequences</italic>]</p> </abstract>