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DISORDERS OF GLYCOSYLATION IN INFANTILE EPILEPSY
Ignacy Czajewskiand 3 co-authors
Paris Brain Institute
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS05-09AM-423
Presentation
Date TBA
Board: PS05-09AM-423
Event Information
Poster Board
PS05-09AM-423
Poster
View posterAbstract
MOGHE (Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy) is a recently recognized cortical malformation, associated with drug-resistant seizures starting in the first 5 years of life. When eligible, surgical resection of the epileptogenic focus is the only therapeutic approach available. Genetic investigations of the resected tissues has allowed the identification of mosaic loss of function mutations of the galactose transporter gene SLC35A2 in nearly half of the cases. To better understand this condition, we have investigated patient brain tissues and generated an iPSC model of mosaic loss of SLC35A2. We have employed a multi-OMIC approach to integrate neuropathology, genetics and glycoproteomics, and addressed key questions regarding the role of mosaicism and cell type specific effects of disease-causing mutations. Together, this research provides novel diagnostic tools and biological insights into MOGHE pathogenesis, highlighting the role of complex glycosylation in brain development and functioning.
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