Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
- Snoeijen-Schouwenaars, Francesca M.
- van Ool, Jans S.
- Verhoeven, Judith S.
- van Mierlo, Petra
- Braakman, Hilde M. H.
- Smeets, Eric E.
- Nicolai, Joost
- Schoots, Jeroen
- Teunissen, Mariel W. A.
- Rouhl, Rob P. W.
- Tan, In Y.
- Yntema, Helger G.
- Brunner, Han G.
- Pfundt, Rolph
- Stegmann, Alexander P.
- Kamsteeg, Erik-Jan
- Schelhaas, Helenius J.
- Willemsen, Marjolein H.
Publication date
January 2019
DOIAbstract
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</p
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