17/28 (60.7%) had a history of epilepsy, with mean seizure onset at 37 months (interquartile range 5–60 months, range 2 months to 19 years). Descriptive statistics are provided for the first year of an ongoing natural history study.Īll subjects had typical symptoms including: global developmental delay and/or intellectual disability, hypo- or alacrima, hyperkinetic movement disorder and transient elevation in transaminases. 14 subjects also underwent in-person evaluations including EEG, obtained via 20 lead standard array. Seizure and medication history was confirmed with prior records. We performed prospective phenotyping of 28 subjects with NGLY1 deficiency via standardized clinician interviews every 4 months of medical, developmental and seizure history. To refine the electroclinical phenotype of epilepsy in NGLY1 deficiency via prospective clinical and electroencephalogram (EEG) findings in an international cohort.
Stanford University School of Medicine, Stanford, CA