IEM - Disorders presenting in the neonatal period or in early infancy (1)
Epileptic Disorders Podcast: Weekly DigestShow Notes
Disorders discussed: - Pyridoxine-dependent developmental and epileptic encephalopathy (PD-DEE) - Pyridoxamine-5’-phosphate oxidase (PNPO) deficiency DEE - FOL1-related cerebral folate transport deficiency
Article reference: Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M. Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. Epileptic Disord. 2025 Oct;27(5):745-802.
https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065
Speaker: Helena Barbosa Horta Santos MD Producer: Irfan S. Sheikh MD
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