{Reference Type}: Case Reports
{Title}: Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.
{Author}: Chauhan A;Tripathi S;Kumar M;
{Journal}: Pediatr Neurol
{Volume}: 149
{Issue}: 0
{Year}: 2023 Dec 26
{Factor}: 4.21
{DOI}: 10.1016/j.pediatrneurol.2023.08.032
{Abstract}: Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is a wide spectrum of clinical manifestations, and in the absence of biochemical markers, clinical diagnosis is often delayed. We report a case of neonatal seizures that initially responded to antiepileptic drugs but later presented with intractable seizures and metabolic abnormalities. Clinical exome sequencing was suggestive of ALDH7A1 mutation.