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Neurology 1999;52:1694
© 1999 American Academy of Neurology
Brief Communications

Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13

F. Gurrieri, MD, A. Battaglia, MD, L. Torrisi, PhD, R. Tancredi, MD, C. Cavallaro, PhD, E. Sangiorgi, MD and G. Neri, MD

From the Institute of Medical Genetics (Drs. Gurrieri, Torrisi, Sangiorgi, and Neri), Catholic University School of Medicine and Centro Ricerche sulla Disabilità Mentale e Motoria, Associazione Anni Verdi, Rome; and the Stella Maris Scientific Research Institute (Drs. Battaglia, Tancredi, and Cavallaro), Division of Child Neurology and Psychiatry, University of Pisa, Calambrone, Pisa, Italy.

Address correspondence and reprint requests to Dr. F. Gurrieri, Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Lgo. F. Vito, 1-00168 Rome, Italy; e-mail: fgurrieri{at}rm.unicatt.it

Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.




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