Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the  gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).