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Article

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Ganesan Shiva, Galer Peter D, Helbig Katherine L, McKeown Sarah E, O'Brien Margaret, Gonzalez Alexander K, Felmeister Alex S, Khankhanian Pouya, Ellis Colin A, Helbig Ingo

Abstract excerpt

PURPOSE: Childhood epilepsies have a strong genetic contribution, but the disease trajectory for many genetic etiologies remains unknown. Electronic medical record (EMR) data potentially allow for the analysis of longitudinal clinical information but this has not yet been explored. METHODS: We analyzed provider-entered neurological diagnoses made at 62,104 patient encounters from 658 individuals with known or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32773773
DOI: 10.1038/s41436-020-0923-1
PMCID: PMC7708303

Genes

SCN1A
STXBP1

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