Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.

ABSTRACT:

Purpose

An early genetic diagnosis can guide the time-sensitive treatment of individuals with genetic epilepsies. However, most genetic diagnoses occur long after disease onset. We aimed to identify early clinical features suggestive of genetic diagnoses in individuals with epilepsy through large-scale analysis of full-text electronic medical records.

Methods

We extracted 89 million time-stamped standardized clinical annotations using Natural Language Processing from 4,572,783 clinical notes from 32,112 individuals with childhood epilepsy, including 1925 individuals with known or presumed genetic epilepsies. We applied these features to train random forest models to predict SCN1A-related disorders and any genetic diagnosis.

Results

We identified 47,774 age-dependent a

SUBMITTER: Galer PD 

PROVIDER: S-EPMC11656408 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature