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

doi:10.1111/epi.14618

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 journal › Article › Academic › peer-review

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 language	English
Pages (from-to)	155-164
Number of pages	10
Journal	Epilepsia
Volume	60
Issue number	1
DOIs	https://doi.org/10.1111/epi.14618
Publication status	Published - 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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10.1111/epi.14618

Cite this

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E.-J., Schelhaas, H. J., & Willemsen, M. H. (2019). Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia, 60(1), 155-164. https://doi.org/10.1111/epi.14618

@article{be88645436e64ba58b2dd6b3dc7f3075,

title = "Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability",

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",

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

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

note = "Publisher Copyright: Wiley Periodicals, Inc. {\textcopyright} 2018 International League Against Epilepsy",

year = "2019",

month = jan,

doi = "10.1111/epi.14618",

language = "English",

volume = "60",

pages = "155--164",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley",

number = "1",

}

Snoeijen-Schouwenaars, FM, van Ool, JS, Verhoeven, JS, van Mierlo, P, Braakman, HMH, Smeets, EE, Nicolai, J, Schoots, J, Teunissen, MWA , Rouhl, RPW, Tan, IY, Yntema, HG, Brunner, HG, Pfundt, R, Stegmann, AP, Kamsteeg, E-J, Schelhaas, HJ & Willemsen, MH 2019, 'Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability', Epilepsia, vol. 60, no. 1, pp. 155-164. https://doi.org/10.1111/epi.14618

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T1 - Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

AU - Snoeijen-Schouwenaars, Francesca M.

AU - van Ool, Jans S.

AU - Verhoeven, Judith S.

AU - van Mierlo, Petra

AU - Braakman, Hilde M. H.

AU - Smeets, Eric E.

AU - Nicolai, Joost

AU - Schoots, Jeroen

AU - Teunissen, Mariel W. A.

AU - Rouhl, Rob P. W.

AU - Tan, In Y.

AU - Yntema, Helger G.

AU - Brunner, Han G.

AU - Pfundt, Rolph

AU - Stegmann, Alexander P.

AU - Kamsteeg, Erik-Jan

AU - Schelhaas, Helenius J.

AU - Willemsen, Marjolein H.

PY - 2019/1

Y1 - 2019/1

N2 - 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

AB - 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

KW - genetic diagnosis

KW - learning disability

KW - next generation sequencing

KW - seizures

KW - DE-NOVO MUTATIONS

KW - GENETICS

KW - ENCEPHALOPATHY

KW - EPIDEMIOLOGY

KW - LAMOTRIGINE

KW - GENOMICS

KW - CHILDREN

KW - PEOPLE

KW - GRIN2A

KW - PAPER

U2 - 10.1111/epi.14618

DO - 10.1111/epi.14618

M3 - Article

C2 - 30525188

SN - 0013-9580

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SP - 155

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JF - Epilepsia

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