Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency.

We here describe a previously unreported individual harboring bi-allelic pathogenic PLPHP variants presenting with paroxysmal eye-head-movements followed by epileptic spasms and an almost normal interictal electroencephalogram (EEG), thus expanding the clinical spectrum of PLPBP deficiency. This warrants consideration of vitamin-B6-dependent epilepsies in patients with early-onset epilepsy, including epileptic spasms, and eye movement disorders also beyond the neonatal period even when metabolic screening for vitamin-B6- dependent epilepsies is negative. PLPHP should be included systematically in NGS epilepsy gene panels.