Genetic variations and differential expression of NDUFV1 are associated with several human neurological disorders, including Mitochondrial Complex I Deficiency, Parkinson disease (PD), Alzheimer’s Disease (AD), myoclonic epilepsy, schizophrenia, Leigh syndrome and leukoencephalopathy [35–45]. Here, NDUFV1 is linked to hyperinsulinemic hypoglycemia, familial, 4.