Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

While genetic studies of epilepsies can be performed in thousands of individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution of complex phenotypes with age. Here, we present a novel approach, applying phenotypic similarity analysis to a total o...

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Detalles Bibliográficos
Autores principales: Lewis-Smith, David, Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Khankhanian, Pouya, Kaufman, Michael C., Gonzalez, Alexander K., Felmeister, Alex S., Krause, Roland, Ellis, Colin A., Helbig, Ingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560769/
https://www.ncbi.nlm.nih.gov/pubmed/34031551
http://dx.doi.org/10.1038/s41431-021-00908-8

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