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Article

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

Epilepsia - 1 Sept 2002

Chifari Rosanna, Guerrini Renzo, Pierluigi Mauro, Cavani Simona, Sgrò Vincenzo, Elia Maurizio, Canger Raffaele, Canevini Maria Paola

Abstract excerpt

PURPOSE: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including...

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Identifiers

PMID: 12199736
DOI: 10.1046/j.1528-1157.2002.34101.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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