Article

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

2022-12-09

Abstract excerpt

An early genetic diagnosis can guide the time-sensitive treatment and care of individuals with genetic epilepsies. However, identification of a genetic cause often occurs long after onset of these disorders. Here, we aimed to identify early clinical features suggestive of genetic diagnoses in individuals with epilepsy by systematic large-scale analysis of clinical information from full-text patient notes in the el...

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Literature Corpus work: 8d556cc9-b308-5e84-b9ae-6b9fab9bc339
DOI: 10.1101/2022.12.08.22283226

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