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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068/
https://www.ncbi.nlm.nih.gov/pubmed/26993267
http://dx.doi.org/10.1136/jmedgenet-2015-103263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068/
https://www.ncbi.nlm.nih.gov/pubmed/26993267
http://dx.doi.org/10.1136/jmedgenet-2015-103263

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