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Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

Departments of Neurology, Baylor College of Medicine, agoldman{at}bcm.tmc.edu., Peter Kellaway Section of Neurophysiology, Baylor College of Medicine, agoldman{at}bcm.tmc.edu.

Lorraine Potocki, MD

Molecular and Human Genetics, Baylor College of Medicine

Katherina Walz, PhD

Molecular and Human Genetics, Baylor College of Medicine

Jennifer K. Lynch, MD

Departments of Neurology, Baylor College of Medicine, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine

Daniel G. Glaze, MD

Departments of Neurology, Baylor College of Medicine, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine, Pediatrics, Baylor College of Medicine

James R. Lupski, MD, PhD

Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX

Jeffrey L. Noebels, MD, PhD

Departments of Neurology, Baylor College of Medicine, Molecular and Human Genetics, Baylor College of Medicine

Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abnormalities in patients with Smith-Magenis syndrome with defined chromosomal rearrangements and to describe the spectrum of abnormal EEG patterns. Prolonged video-EEGs were obtained in 60 patients. Eighteen percent of patients reported a seizure history; however, abnormal EEGs were identified in 31 of the 60 subjects and 27 of 31 were epileptiform. Generalized epileptiform patterns were the most common (73%). Most patients with either small or large deletions had an abnormal EEG (83%; 75%) in contrast to those with a common deletion (49%). Our results indicate that epileptiform EEG abnormalities are frequent in patients with Smith-Magenis syndrome. Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical seizures, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype. ( J Child Neurol 2006;21:93—98; DOI 10.2310/7010.2006.00030).

Journal of Child Neurology, Vol. 21, No. 2, 93-98 (2006)
DOI: 10.1177/08830738060210021201


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