Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional publi...

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Detalhes bibliográficos
Main Authors: Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W, Balasubramanian, Sandhya, Kumar, Ravinesh, Christian, Susan L, Marini, Carla, Guerrini, Renzo, Maltsev, Natalia, Shaffer, Lisa G, Dobyns, William B
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3230360/
https://ncbi.nlm.nih.gov/pubmed/21694734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.121
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