IEM - Disorders presenting in late infancy and childhood (3)

IEM - summary

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 [https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065]   Speaker: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD

IEM - Disorders presenting in late infancy and childhood (3)

Disorders discussed: - Progressive myoclonic epilepsies   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 [https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065]   Speaker: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD

IEM - Disorders presenting in late infancy and childhood (2)

Disorders discussed:  - Lysosomal storage disorders   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 [https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065]   Speaker: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD

IEM - Disorders presenting in late infancy and childhood (1)

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 [https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065]   Speaker: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD

IEM - Disorders presenting in the neonatal period or in early infancy (5)

Disorders discussed: - Menkes disease - Peroxismal disorders   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 [https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065]   Speaker: Helena Barbosa Horta Santos MD Producer: Irfan S. Sheikh MD