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

Francesca M. Snoeijen-Schouwenaars*, Jans S. van Ool, Judith S. Verhoeven, Petra van Mierlo, Hilde M. H. Braakman, Eric E. Smeets, Joost Nicolai, Jeroen Schoots, Mariel W. A. Teunissen, Rob P. W. Rouhl, In Y. Tan, Helger G. Yntema, Han G. Brunner, Rolph Pfundt, Alexander P. Stegmann, Erik-Jan Kamsteeg, Helenius J. Schelhaas, Marjolein H. Willemsen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

39 Citations (Web of Science)

Abstract

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 we assessed the potential impact of the genetic diagnosis on (antiepileptic) treatment strategy. Methods One hundred patients with both unexplained epilepsy and (borderline) ID (intelligence quotient

Original languageEnglish
Pages (from-to)155-164
Number of pages10
JournalEpilepsia
Volume60
Issue number1
DOIs
Publication statusPublished - Jan 2019

Keywords

  • genetic diagnosis
  • learning disability
  • next generation sequencing
  • seizures
  • DE-NOVO MUTATIONS
  • GENETICS
  • ENCEPHALOPATHY
  • EPIDEMIOLOGY
  • LAMOTRIGINE
  • GENOMICS
  • CHILDREN
  • PEOPLE
  • GRIN2A
  • PAPER

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