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

Author:

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

Abstract

Article abstract 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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 56 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. INVERTED DUPLICATED CHROMOSOME 15 SYNDROME (ISODICENTRIC 15);Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

2. Developmental disabilities, autism, and schizophrenia at a single locus;Neurodevelopmental Disorders;2020

3. Genetic Causes and Modifiers of Autism Spectrum Disorder;Frontiers in Cellular Neuroscience;2019-08-20

4. Genetic and epigenetic mechanisms of epilepsy: a review;Neuropsychiatric Disease and Treatment;2017-07

5. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q);Epilepsy & Behavior;2016-04

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