John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1 Volume 16, issue 3, September 2014

Videos

  • Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
  • Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
  • Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
  • Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
  • Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

Figures

  • Figure 1
Authors
1 Neonatology and Neonatal Resuscitation unit
2 Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez
3 Neurology and Molecular Neuroscience Research Group
4 Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK
5 Pediatric Department (Neurophysiological exploration unit), CHU HASSAN II, Fez, Morocco
* Correspondence: Hmami Fouzia Service de Néonatologie et Réanimation Néonatale, Chu Hassan II, 30000 Fez, Morocco
  • Key words: hyperekplexia, startle disease, Vigevano manoeuvre, clonazepam, apnoea
  • DOI : 10.1684/epd.2014.0663
  • Page(s) : 354-7
  • Published in: 2014

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 GLRA1 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 GLRA1-mediated hyperekplexia. [Published with video sequences]