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2. Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

Author

Macdonald-Laurs, Emma, Dzau, Winston, Warren, Aaron E.L., Coleman, Matthew, Mignone, Cristina, Stephenson, Sarah E. M., and Howell, Katherine B.

Abstract

Infantile epileptic spasms syndrome (IESS) is a common developmental and epileptic encephalopathy with poor long-term outcomes. A substantial proportion of patients with IESS have a potentially surgically remediable etiology. Despite this, epilepsy surgery is underutilized in this patient group. Some surgically remediable etiologies, such as focal cortical dysplasia and malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), are under-diagnosed in infants and young children. Even when a surgically remediable etiology is recognised, for example, tuberous sclerosis or focal encephalomalacia, epilepsy surgery may be delayed or not considered due to diffuse EEG changes, unclear surgical boundaries, or concerns about operating in this age group. In this review, the authors discuss the common surgically remediable etiologies of IESS, their clinical and EEG features, and the imaging techniques that can aid in their diagnosis. They then describe the surgical approaches used in this patient group, and the beneficial impact that early epilepsy surgery can have on developing brain networks. Epilepsy surgery remains underutilized even when a potentially surgically remediable cause is recognized. Overcoming the barriers that result in under-recognition of surgical candidates and underutilization of epilepsy surgery in IESS will improve long-term seizure and developmental outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Author

Van Bergen, Nicole J., primary, Hock, Daniella H., additional, Spencer, Lucy, additional, Massey, Sean, additional, Stait, Tegan, additional, Stark, Zornitza, additional, Lunke, Sebastian, additional, Roesley, Ain, additional, Peters, Heidi, additional, Lee, Joy Yaplito, additional, Le Fevre, Anna, additional, Heath, Oliver, additional, Mignone, Cristina, additional, Yang, Joseph Yuan-Mou, additional, Ryan, Monique M., additional, D’Arcy, Colleen, additional, Nash, Margot, additional, Smith, Sile, additional, Caruana, Nikeisha J., additional, Thorburn, David R., additional, Stroud, David A., additional, White, Susan M., additional, Christodoulou, John, additional, and Brown, Natasha J., additional

Published
2022
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8. An unexpected disease course for a patient with diffuse midline glioma

Author

Malalasekera, Vajiranee S, D'Arcy, Colleen E, Mignone, Cristina, Wray, Alison C, Nazarian, Javad, Freeman, Jeremy L, Hansford, Jordan R, University of Zurich, and Hansford, Jordan R

Subjects
10036 Medical Clinic, 2720 Hematology, 610 Medicine & health, 2730 Oncology, 2735 Pediatrics, Perinatology and Child Health
Published
2021
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10. Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

Author

Jaggumantri, Sravan, primary, Dunbar, Mary, additional, Edgar, Vanessa, additional, Mignone, Cristina, additional, Newlove, Theresa, additional, Elango, Rajavel, additional, Collet, Jean Paul, additional, Sargent, Michael, additional, Stockler-Ipsiroglu, Sylvia, additional, and van Karnebeek, Clara D.M., additional

Published
2015
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