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Journal of Pediatric Epilepsy 2015; 04(01): 041-046
DOI: 10.1055/s-0035-1554791
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Wolf–Hirschhorn Syndrome and Epilepsy: An Overview

Ohsuke Migita
1   Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan
,
Noriko Udagawa
1   Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan
,
Hitoshi Yamamoto
1   Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan
› Author Affiliations
Further Information

Publication History

07 September 2014

29 October 2014

Publication Date:
03 July 2015 (online)

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Abstract

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. Etiology 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.

Keywords

Wolf–Hirschhorn syndrome - 4p deletion - epilepsy - seizure
 

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