Wolf-Hirschhorn Syndrome and Epilepsy: An Overview

摘要

The Wolf-Hirschhorn syndrome (WHS, OMIM194190) is a contiguous gene deletion syndrome of the distal part of the short arm of chromosome 4 (4p16 region) characterized by a distinctive facial appearance, intrauterine and postnatal growth delay, intellectual disability, and seizures. The WHS clinical spectrum is complex and variable. Typically, more than 90% of WHS-related patients begin seizures in the first 3 years of life. In these cases, most of the epilepsy is well controlled, and over half of the patients stopped having seizures after adolescence. Etioiogy and/or genetics of their seizures were unclear. The clinical data on the association between epilepsy and chromosomal abnormalities is likely to improve our understanding of the functions and mechanisms of genes related to epilepsy. Future studies would be needed for a deeper understanding of WHS.