Background: Vitamin B6-dependent epilepsies include treatable diseases responding to
pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding …

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Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually
presenting with neonatal seizures. Most cases are caused by biallelic pathogenic …

Developmental and epileptic encephalopathies are conditions where there is
developmental impairment related to both the underlying etiology independent of …

Introduction Infantile epileptic spasms syndrome (IESS) is characterized by epileptic
spasms, regardless of hypsarrhythmia on electroencephalogram or neurodevelopmental …

Pyridoxine-dependent epilepsy–ALDH7A1 (PDE-ALDH7A1) is characterized by seizures
not well controlled with anti-seizure medication that are responsive clinically and …

To describe a new phenotype and the diagnostic workup of a vitamin-B 6-dependent
epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant …

Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES)
in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy …

Nodding Syndrome (NS) has occurred among severely food-stressed communities in
northern Uganda and several other East African populations that, with their forced physical …

The personal experience of 36 years in charge of the Newborn Screening Laboratory in
Galicia and the consequences of the recent advancement of sampling from 3 days to 24 …