Focal Cortical Dysplasia Type 1 (FCD I)

Epilepsy affects approximately 50 million people worldwide, and while antiepileptic drugs (AEDs) effectively control seizures in 60–70% of patients, over one-third suffer from intractable epilepsy, requiring further investigation into structural brain abnormalities like Focal Cortical Dysplasia (FCD) for potential surgical treatment. FCD Type I, a milder subtype lacking dysmorphic neurons, has been increasingly linked to genetic mutations, particularly in the SLC35A2 gene. Emerging research suggests that age and gender may modulate the relationship between SLC35A2 mutations and the manifestation of FCD Type I, with studies indicating that these demographic factors could influence the expression, penetrance, or clinical presentation of the genetic mutations in resected brain tissue. Understanding these variables is essential for improving diagnostic precision and tailoring individualized treatment strategies for patients with drug-resistant epilepsy.