Article

Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study

2025-06-14

Abstract excerpt

<h4>ABSTRACT</h4> Malan syndrome is an ultra-rare Overgrowth-Intellectual Disability syndrome caused by pathogenic NFIX variants, characterized by intellectual disability, postnatal overgrowth, and dysmorphic features. Seizures in Malan syndrome remain poorly understood. We surveyed caregivers of 53 individuals with Malan syndrome. Overall, 55% had seizures or EEG abnormalities. Seizures occurred in 47%, with 28%...

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Literature Corpus work: 93645900-433f-542f-84d7-31386916cc60
DOI: 10.1101/2025.06.13.25329538

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