A child with hyperekplexia and epileptic myoclonus
Loading...
Files
Date
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley Blackwell
Abstract
Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea. We report a novel case of concomitant GLRA1-related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventually developed spells induced by noise and surprise. All his spells remitted upon treatment with clonazepam. Paediatricians and paediatric neurologists should be aware of this possible mixed presentation in order to appropriately tailor medication regimens and treatment goals. [Published with video sequence on www.epilepticdisorders.com]. © 2018 Epileptic Disorders
Description
Keywords
Epilepsy, Genetic, Glycine receptor, Hyperekplexia, Myoclonus, Epilepsies, myoclonic, Humans, Infant, Male, Receptors, glycine, Clonazepam, Levetiracetam, Pyridoxine, Topiramate, Glycine receptor alpha1, Article, Case report, Child, Clinical article, Drug dose increase, Dysplasia, Electroencephalogram, Genetic screening, Head circumference, Human, Muscle tone, Myoclonus seizure, Nuclear magnetic resonance imaging, Physical examination, Preschool child, Priority journal, Social interaction, Walking, Whole exome sequencing, Genetics, Myoclonus epilepsy