Kalser J, Giuliano F, Peralta M, Plecko B, et al. Infantile spasms without hypsarrhythmia and paroxysmal eye-head movements in an infant with a pyridoxine dependent epilepsy due to PLPBP/PLPHP deficiency. Neuropediatrics 2022 Dec 28. doi: 10.1055/a-2003-9886.
PMID: 36577449