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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845474/
https://www.ncbi.nlm.nih.gov/pubmed/27113213
http://dx.doi.org/10.1186/s12881-016-0294-2

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