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Article

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

Seizure - 1 Dec 2017

d'Orsi Giuseppe, Martino Tommaso, Palumbo Orazio, Pascarella Maria Grazia, Palumbo Pietro, Di Claudio Maria Teresa, Avolio Carlo, Carella Massimo

Abstract excerpt

PURPOSE: To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) METHODS: we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and...

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Source

Identifiers

PMID: 29156220
DOI: 10.1016/j.seizure.2017.11.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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