Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

doi:10.1002/ajmg.b.32114

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Article

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2013

Nicholl Jillian, Waters Wendy, Suwalski Shanna, Brown Sue, Hull Yvonne, Harbord Michael G, Entwistle John, Thompson Suzanna, Clark Damian, Pridmore Claire, Haan Eric, Barnett Christopher, McGregor Lesley, Liebelt Jan, Thompson Elizabeth M, Friend Kathryn, Bain Sharon M, Yu Sui, Mulley John C

Abstract excerpt

The clinical significance of chromosomal microdeletions and microduplications was predicted based on their gene content, de novo or familial inheritance and accumulated knowledge recorded on public databases. A patient group comprised of 247 cases with epilepsy and its common co-morbidities of developmental delay, intellectual disability, autism spectrum disorders, and congenital abnormalities was reviewed...

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PMID: 23184456
DOI: 10.1002/ajmg.b.32114

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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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