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Article

Clinical utility of exome sequencing in a pediatric epilepsy cohort.

Epilepsia - 1 Apr 2023

Graifman Jordana L, Lippa Natalie C, Mulhern Maureen S, Bergner Amanda L, Sands Tristan T

Abstract excerpt

OBJECTIVE: Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once a diagnosis is received. This study systematically reviewed the impact of ES results on clinical decision-making and patient care in a pediatric epilepsy cohort at a tertiary care...

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Identifiers

PMID: 36740579
DOI: 10.1111/epi.17534

Provenance

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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