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Article

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

7 Dec 2018

Abstract excerpt

OBJECTIVE: Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES). In addition, we evaluated which clinical characteristics influence the likelihood of identifying a genetic cause and...

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PMID: 30525188
DOI: 10.1111/epi.14618

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