De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual...

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Detalles Bibliográficos
Autores principales: de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
New Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264224/
https://www.ncbi.nlm.nih.gov/pubmed/27358180
http://dx.doi.org/10.1136/jmedgenet-2016-103909

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