Epileptic Disorders Podcast: Weekly Digest

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
 
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
 
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
 
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
 
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
 
Speaker: Helena Barbosa Horta Santos MD
Producer: Irfan S. Sheikh MD

IEM - Disorders presenting in the neonatal period or in early infancy (4)

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

IEM - Disorders presenting in the neonatal period or in early infancy (3)

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

IEM - Disorders presenting in the neonatal period or in early infancy (2)

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

IEM - Disorders presenting in the neonatal period or in early infancy (1)

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

Inborn errors of metabolism (IEM) - Introduction

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