Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Judith KalserFabienne GiulianoMaria PeraltaBarbara PleckoBigna Katrin BölsterliPublished in: Neuropediatrics (2023)
should be included systematically in NGS epilepsy gene panels.