Epileptic Disorders
MENUNeonatal hyperekplexia with homozygous p.R392H mutation in GLRA1 Volume 16, numéro 3, September 2014
- Mots-clés : hyperekplexia, startle disease, Vigevano manoeuvre, clonazepam, apnoea
- DOI : 10.1684/epd.2014.0663
- Page(s) : 354-7
- Année de parution : 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]