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2021 Western Medical Research Conference

2020 Journal of Investigative Medicine  
Purpose of Study To refine the electroclinical phenotype of epilepsy in NGLY1 deficiency via prospective clinical and electroencephalogram (EEG) findings in an international cohort.  ...  Descriptive statistics are provided for the first year of an ongoing natural history study.  ...  AN care:  ... 
doi:10.1136/jim-2021-wrmc fatcat:ec52pfr2efgafb665m2czugyqy