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Article

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

European journal of human genetics : EJHG - 1 Nov 2021

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

Abstract excerpt

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 of 3251 patient-years of longitudinal electronic medical record data from a previously reported cohort of 658...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 34031551
DOI: 10.1038/s41431-021-00908-8
PMCID: PMC8560769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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