Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye –Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency

Conclusion We here describe a previously unreported individual harboring biallelic pathogenic PLPHP variants presenting with paroxysmal eye–head movements followed by epileptic spasms and an almost normal interictal electroencephalogram, 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. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research