Late Diagnosis of Pyridoxine-dependent Epilepsy due to a PROSC-mutation with Whole-exome-Sequencing and Natural History without Administration of Pyridoxine until Adolescence

Question: Pyridoxin-dependent epilepsy is a well-known and therapeutically relevant differential diagnosis in seizures of the newborn. Several causal mutations and subsequent metabolic changes are described in the literature, the most frequent underlying cause is an Antiquitin-mutation. In 2016 PROSC-gene mutations were identified as a novel cause of Vitamin B6-responsive epilepsy, not related to a metabolic biomarker. So far 15 patients were...