Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

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...

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Bibliographic Details
Published in:Epileptic disorders 2014-09, Vol.16 (3), p.354-357
Main Authors: Hmami, Fouzia, Wood, Sian-Elin, Chaouki, Sana, Oulmaati, Abdellah, Hida, Mustapha, Rees, Mark I., Chung, Seo-Kyung, Bouharrou, Abdelhak
Format: Article
Language:English
Subjects:
apnoea
Babies
clonazepam
Humans
hyperekplexia
Infant, Newborn
Male
Mutation
Mutation, Missense
Receptors, Glycine - genetics
Reflex, Startle - genetics
startle disease
Stiff-Person Syndrome - genetics
Vigevano manoeuvre
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Summary: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]
ISSN:1294-9361
1950-6945
DOI:10.1684/epd.2014.0663