Prevalence of <i>ALDH7A1</i> mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients

Abstract

Our study advances previous findings that defects of ALDH7A1 are almost always the cause of neonatal-onset PDS and that defects in this gene are also responsible for some but not all later-onset cases. Later-onset cases of infantile spasms with good outcomes lacked evidence for antiquitin dysfunction, suggesting that this phenotype is less compelling for PDS.