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- Fouzia Hmami, Sian-Elin Wood, Sana Chaouki, Abdellah Oulmaati, Mustapha Hida, Mark I Rees, Seo-Kyung Chung, and Abdelhak Bouharrou.
- Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
- Epileptic Disord. 2014 Sep 1;16(3):354-7.
AbstractHyperekplexia 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].
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