IEM - Disorders presenting in late infancy and childhood (1)
Epileptic Disorders Podcast: Weekly DigestShow Notes
Disorders discussed: - Glucose transporter type 1 deficiency syndrome (Glut1DS) - Mitochondrial disorders - Cerebral creatine deficiency syndromes - Congenital disorders of glycosylation
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: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD
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