However, the initial diagnosis of PDE in patient 1 was uncertain due to the following conditions: low Apgar scores resulting in hypoxic ischemic encephalopathy, the initial response to phenobarbital that prevented early pyridoxine testing, and difficulty in observing the independent effect of pyridoxine due to a combination of different antiepileptic drugs. This evidence concerns the gene ALDH7A1 and perinatal asphyxia.