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

Research output: Contribution to journalArticleAcademicpeer-review

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

Cite this

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., ... 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
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. / Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. In: Epilepsia. 2019 ; Vol. 60, No. 1. pp. 155-164.
@article{be88645436e64ba58b2dd6b3dc7f3075,
title = "Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability",
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.}",
year = "2019",
month = "1",
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

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.

In: Epilepsia, Vol. 60, No. 1, 01.2019, p. 155-164.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

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

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

VL - 60

SP - 155

EP - 164

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 1

ER -

Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE et al. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia. 2019 Jan;60(1):155-164. https://doi.org/10.1111/epi.14618