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

Fiorella Gurrieri; A. Battaglia; L. Torrisi; R. Tancredi; C. Cavallaro; Eugenio Sangiorgi; G. Neri; Giovanni Neri

doi:10.1212/wnl.52.8.1694

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

Fiorella Gurrieri, A. Battaglia, L. Torrisi, R. Tancredi, C. Cavallaro, Eugenio Sangiorgi, G. Neri, Giovanni Neri

Risultato della ricerca: Contributo in rivista › Articolo in rivista

58 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	1694-1697
Numero di pagine	4
Rivista	Neurology
Volume	52
DOI	https://doi.org/10.1212/wnl.52.8.1694
Stato di pubblicazione	Pubblicato - 1999

Keywords

Child Development Disorders, Pervasive
Chromosomes, Human, Pair 15
Epilepsy
Gene Duplication
Pedigree

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10.1212/wnl.52.8.1694

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title = "Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13",

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.",

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author = "Fiorella Gurrieri and A. Battaglia and L. Torrisi and R. Tancredi and C. Cavallaro and Eugenio Sangiorgi and G. Neri and Giovanni Neri",

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T1 - Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13

AU - Gurrieri, Fiorella

AU - Battaglia, A.

AU - Torrisi, L.

AU - Tancredi, R.

AU - Cavallaro, C.

AU - Sangiorgi, Eugenio

AU - Neri, G.

AU - Neri, Giovanni

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Child Development Disorders, Pervasive

KW - Chromosomes, Human, Pair 15

KW - Epilepsy

KW - Gene Duplication

KW - Pedigree

KW - Child Development Disorders, Pervasive

KW - Chromosomes, Human, Pair 15

KW - Epilepsy

KW - Gene Duplication

KW - Pedigree

UR - http://hdl.handle.net/10807/3891

U2 - 10.1212/wnl.52.8.1694

DO - 10.1212/wnl.52.8.1694

M3 - Article

SN - 0028-3878

VL - 52

SP - 1694

EP - 1697

JO - Neurology

JF - Neurology

ER -

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

Abstract

Keywords

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