title: Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
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].
authors.affiliation: Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
authors.forename: Fouzia
authors.initials: F
authors.lastname: Hmami
authors.affiliation: Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
authors.forename: Sian-Elin
authors.initials: SE
authors.lastname: Wood
authors.affiliation: Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez, Pediatric Department (Neurophysiological exploration unit), CHU HASSAN II, Fez, Morocco.
authors.forename: Sana
authors.initials: S
authors.lastname: Chaouki
authors.affiliation: Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
authors.forename: Abdellah
authors.initials: A
authors.lastname: Oulmaati
authors.affiliation: Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez, Pediatric Department (Neurophysiological exploration unit), CHU HASSAN II, Fez, Morocco.
authors.forename: Mustapha
authors.initials: M
authors.lastname: Hida
authors.affiliation: Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
authors.forename: Mark I
authors.initials: MI
authors.lastname: Rees
authors.affiliation: Neurology and Molecular Neuroscience Research Group, Wales Epilepsy Research Network, College of Medicine, Swansea University, Swansea, UK.
authors.forename: Seo-Kyung
authors.initials: SK
authors.lastname: Chung
authors.affiliation: Neonatology and Neonatal Resuscitation unit, Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez.
authors.forename: Abdelhak
authors.initials: A
authors.lastname: Bouharrou
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*; D016750:Stiff-Person Syndrome / Q000235:genetics*
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine
keywords: Vigevano manoeuvre; apnoea; clonazepam; hyperekplexia; startle disease