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

ABSTRACT:

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 presumed genetic epilepsies. To harmonize clinical terminology, we mapped clinical descriptors to Human Phenotype Ontology (HPO) terms and inferred higher-level phenotypic concepts. We then binned the resulting 286,085 HPO terms to 100 3-month time intervals and assessed gene-phenotype associations at each interval.

Results

We analyzed a median follow-up of 6.9 yea

SUBMITTER: Ganesan S 

PROVIDER: S-EPMC7708303 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature