Epilepsy, Early-Onset, 4, Vitamin B6-Dependent (EPEO4)

Epilepsy, Early-Onset, 4, Vitamin B6-Dependent, also known as pyridoxine-dependent epilepsy, is related to status epilepticus and epilepsy, and has symptoms including seizures and myoclonic seizures. An important gene associated with Epilepsy, Early-Onset, 4, Vitamin B6-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Pyridoxine and Vitamin B 6 have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are seizure and neurodevelopmental delay