Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

Epileptic Disord. 2014 Sep;16(3):354-7. doi: 10.1684/epd.2014.0663.

Abstract

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].

Keywords: Vigevano manoeuvre; apnoea; clonazepam; hyperekplexia; startle disease.

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Receptors, Glycine / genetics*
  • Reflex, Startle / genetics*
  • Stiff-Person Syndrome / genetics*

Substances

  • GLRA1 protein, human
  • Receptors, Glycine