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Article

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Clinical genetics - 1 Oct 2014

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D

Abstract excerpt

Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying...

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Identifiers

PMID: 24116836
DOI: 10.1111/cge.12288

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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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