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Article

Neurological features and long-term follow-up in 15q11.2-13.1 duplication.

European journal of medical genetics - 1 Nov 2013

Coppola Antonietta, Ruosi Patrizia, Santulli Lia, Striano Salvatore, Zara Federico, Striano Pasquale, Sisodiya Sanjay M

Abstract excerpt

Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader-Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and...

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Identifiers

PMID: 24075935
DOI: 10.1016/j.ejmg.2013.08.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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