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

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

Risultato della ricerca: Contributo in rivistaArticolo 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 originaleEnglish
pagine (da-a)1694-1697
Numero di pagine4
RivistaNeurology
Volume52
Stato di pubblicazionePubblicato - 1999

Keywords

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

Fingerprint Entra nei temi di ricerca di 'Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13'. Insieme formano una fingerprint unica.

Cita questo