Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

This article focuses on the prevalence, types, and prognosis of epilepsy in patients with Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome characterized by a deletion on chromosome 7q11.23. In a retrospective study of 589 patients with WBS, epilepsy was found in approximately 1.02% of cases, a rate comparable to that of the general population. Infantile spasms (IS), also known as West syndrome (WS), were the most common epileptic syndrome observed, with all affected patients achieving seizure freedom and showing no deletions involving the membrane-associated guanylate kinase inverted-2 gene (MAGI2), which had previously been suggested to be linked to epilepsy in WBS. The study concludes that epilepsy in WBS is relatively rare, typically presents early with infantile spasms, and generally has a favorable prognosis, while no genotype-phenotype correlation with MAGI2 deletions was confirmed.