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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
Author(s) -
Hmami Fouzia,
Wood SianElin,
Chaouki Sana,
Oulmaati Abdellah,
Hida Mustapha,
Rees Mark I.,
Chung SeoKyung,
Bouharrou Abdelhak
Publication year - 2014
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2014.0663
Subject(s) - clonazepam , hypertonia , medicine , neonatal intensive care unit , asphyxia , pediatrics , amino acid substitution , tonic (physiology) , anesthesia , mutation , biology , genetics , gene
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 ]