Pyridoxine-Responsive Epilepsy Due to Molybdenum Cofactor 2 (MOCS2) Deficiency

Abstract

While it is common practice to consider pyridoxine responsiveness in refractory neonatal seizures as pyridoxine dependency, other causes of pyridoxine responsiveness also exist. Awareness of these conditions is essential, as early diagnosis and genetic testing facilitate effective genetic counseling. Herein, we present a child with pyridoxine-responsive epilepsy due to molybdenum cofactor deficiency.