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

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

Speaker: Helena Barbosa Horta Santos MD

Producer: Irfan S. Sheikh MD

Disorders discussed:

- Maple syrup urine disease

- Phenylketonuria

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

Disorders discussed:

- Biotinidase deficiency (BTD) and

- Holocarboxylase synthetase (HCS) and

- Urea cycle 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

Speaker: Helena Barbosa Horta Santos MD

Producer: Irfan S. Sheikh MD

Disorders discussed: Disorders of amino acid metabolism and disorders involving sulfur-containing amino acid metabolism

- Glycine encephalopathy (nonketotic hyperglycemia)

- Serine biosynthesis disorders

- Molybdenum cofactor deficiency and sulfite oxidase 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

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

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

Part 5 - SE in adults and children - Etiology and age

Article reference:

Leitinger M, Bosque-Varela P, Kuchukhidze G, Leitner U, Höfler J, Kalss G, Rossini F, Pilz G, Novak H, Mauritz M, Poppert K, Toma A, Trinka E. Seminars in epileptology: How to diagnose status epilepticus in adults and children. Epileptic Disord. 2025 Aug;27(4):530-549.

https://onlinelibrary.wiley.com/doi/10.1002/epd2.70033

Speaker: Chloe Algoet PhD

Producer: Giovanni Falcicchio MD, Irfan S. Sheikh, MD