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

Authors
Gurrieri, F Battaglia, A Torrisi, L Tancredi, R Cavallaro, C Sangiorgi, E Neri, G
Citation
F. Gurrieri et al., Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13, NEUROLOGY, 52(8), 1999, pp. 1694-1697
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
52
Issue
8
Year of publication
1999
Pages
1694 - 1697
Database
ISI
SICI code
0028-3878(19990512)52:8<1694:PDDAED>2.0.ZU;2-V
Abstract
Duplications of chromosome 15 have been reported in individuals with atypic al autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation o f a 12-year-old boy with atypical autism and epilepsy due to a maternally d erived 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.