Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

doi:10.1186/s12881-016-0294-2

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Article

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

BMC medical genetics - 26 Apr 2016

Fry Andrew E, Rees Elliott, Thompson Rose, Mantripragada Kiran, Blake Penny, Jones Glyn, Morgan Sian, Jose Sian, Mugalaasi Hood, Archer Hayley, McCann Emma, Clarke Angus, Taylor Clare, Davies Sally, Gibbon Frances, Te Water Naude Johann, Hartley Louise, Thomas Gareth, White Catharine, Natarajan Jaya, Thomas Rhys H, Drew Cheney, Chung Seo-Kyung, Rees Mark I, Holmans Peter, Owen Michael J, Kirov George, Pilz Daniela T, Kerr Michael P

Abstract excerpt

BACKGROUND: Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy. METHODS: We evaluated the range of rare CNVs found in 80 Welsh patients with ID or developmental delay (DD), and childhood-onset epilepsy. We performed molecular cytogenetic...

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Identifiers

PMID: 27113213
DOI: 10.1186/s12881-016-0294-2
PMCID: PMC4845474

Genes

EHMT1
MBD5

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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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