Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS: In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, w...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Genotype-Phenotype Correlations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862068/
https://ncbi.nlm.nih.gov/pubmed/26993267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103263
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