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:

- 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

Speaker: Jasmine Parihar MBBS

Producer: Irfan S. Sheikh MD

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

Speaker: Jasmine Parihar MBBS

Producer: Irfan S. Sheikh MD

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