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November 22, 2004

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

November 23, 2004 issue
63 (10) 1968-1970

Abstract

The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.

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Information & Authors

Information

Published In

Neurology®
Volume 63Number 10November 23, 2004
Pages: 1968-1970
PubMed: 15557528

Publication History

Received: April 17, 2004
Accepted: July 6, 2004
Published online: November 22, 2004
Published in print: November 23, 2004

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Authors

Affiliations & Disclosures

V. Leuzzi, MD
From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome “La Sapienza”; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.
M. L. Di Sabato, MD
From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome “La Sapienza”; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.
M. Zollino, MD
From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome “La Sapienza”; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.
M. L. Montanaro, MD
From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome “La Sapienza”; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.
S. Seri, MD
From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome “La Sapienza”; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.

Notes

Address correspondence and reprint requests to Dr. Vincenzo Leuzzi, Department of Child Neurology and Psychiatry, University of Rome “La Sapienza,” Via dei Sabelli 108, 00185 Rome, Italy; e-mail: [email protected]

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