Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.
Elizabeth RosenfeldRavi Prakash Reddy NangaAlfredo LucasAndrew Y RevellAllison ThomasNina H ThomasDavid R RoalfRussell T ShinoharaRavinder ReddyKathryn A DavisDiva D De LeónPublished in: Orphanet journal of rare diseases (2022)
The high prevalence of abnormal neurocognitive assessment scores and interictal EEG findings observed highlights the importance of longitudinal neuropsychological assessment for individuals with HI/HA syndrome. Our findings demonstrate the potential application of GluCEST to investigate persistent knowledge gaps in the mechanisms underlying the unique neurophenotype of this disorder.