SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome)

Abstract

A 10-year-oldgirlwas evaluated for developmental delayand constipation at age 15 months and was subsequently diagnosed with intellectual disability and autism spectrum dis-order at 2 years. There was no family history of epilepsy or cognitive impairment. She had signi fi cant self-injurious behavior and aggression. Magnetic resonance imaging at age 18 months was normal. At age of 4 years, she had seizure onset with multiple daily episodesofstaringandeye fl utter.Electroencephalogram(EEG) showed eye closure induced generalized spike and wave dis-charges with associated eyelid myoclonia ( ► Video 1 ), absence seizures,andphotoparoxysmalresponse, fi ndingssuggestiveof Epilepsy with Eyelid Myoclonia (EEM). 2 Interictal EEG also showed bi-occipital spikes which could represent fragments of generalized spikes. Antiseizure medications tried included levetiracetam, topiramate, valproic acid, ethosuximide, and cannabidiol. Seizures persisted but there was a reduction of seizures with cannabidiol and ethosuximide. She was treated with clonidine and sertraline for aggression and self-injurious behavior.