Epileptic Disorders
MENUNeonatal hyperekplexia with homozygous p.R392H mutation in GLRA1 Volume 16, numéro 3, September 2014
Video sequence 2 Brutal stopping of the movements with evident normal EEG activity.
> DownloadVideo sequence 5 Attacks of tonic neonatal movements can be stopped by the Vigevano manoeuvre, consisting of forced flexion of the head and legs towards the trunk.
Video sequence 4 Startle in response to gentle flicking of the nose, with exaggerated head-retraction reflex (HRR) consisting of extension of the head, followed by violent flexor spasms of limbs and neck muscles, elicited by flicking the tip of the nose. There was a lack of habituation in response to the repetitive tapping of the glabella.
Video sequence 3 Frequent attacks with trembling, during which time consciousness was unaltered. EEG demonstrated muscle artefact during tonic neonatal movements and absence of epileptiform activity.
Video sequence 1 Brutal, massive, and sustained stiffening of the trunk and limbs with clenching of the fists, during which time voluntary movements were impossible. In addition, rapidly repeated giant compound muscle action potentials (CMAP) were present with severe bradypnoea, which, if more severe, would lead to syncope and even death.