Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

Eduardo Perez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst, Mohammad R. Toliat, Elmo Saarentaus, Daniel P. Howrigan, Per Hoffman, Juan Francisco Miquel, Giancarlo V. De Ferrari, Peter Nuernberg, Holger Lerche, Fritz Zimprich, Bern A. Neubauer & 6 others Albert J. Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G. Weber, Dennis Lal

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJournal of Medical Genetics
Volume54
Issue number9
Pages (from-to)598-606
Number of pages9
ISSN0022-2593
DOIs
Publication statusPublished - Sep 2017
Externally publishedYes
MoE publication typeA1 Journal article-refereed

Fields of Science

  • COPY NUMBER VARIATION
  • AUTISM SPECTRUM DISORDERS
  • ROLANDIC EPILEPSY
  • GRIN2A MUTATIONS
  • INCREASE RISK
  • VARIANTS
  • GENOME
  • DELETIONS
  • GENETICS
  • APHASIA

Cite this

Perez-Palma, E., Helbig, I., Klein, K. M., Anttila, V., Horn, H., Reinthaler, E. M., ... Lal, D. (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. Journal of Medical Genetics, 54(9), 598-606. https://doi.org/10.1136/jmedgenet-2016-104495
Perez-Palma, Eduardo ; Helbig, Ingo ; Klein, Karl Martin ; Anttila, Verneri ; Horn, Heiko ; Reinthaler, Eva Maria ; Gormley, Padhraig ; Ganna, Andrea ; Byrnes, Andrea ; Pernhorst, Katharina ; Toliat, Mohammad R. ; Saarentaus, Elmo ; Howrigan, Daniel P. ; Hoffman, Per ; Miquel, Juan Francisco ; De Ferrari, Giancarlo V. ; Nuernberg, Peter ; Lerche, Holger ; Zimprich, Fritz ; Neubauer, Bern A. ; Becker, Albert J. ; Rosenow, Felix ; Perucca, Emilio ; Zara, Federico ; Weber, Yvonne G. ; Lal, Dennis. / Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. In: Journal of Medical Genetics. 2017 ; Vol. 54, No. 9. pp. 598-606.
@article{426053a0a0fd42f288e0671fea33aa51,
title = "Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies",
keywords = "COPY NUMBER VARIATION, AUTISM SPECTRUM DISORDERS, ROLANDIC EPILEPSY, GRIN2A MUTATIONS, INCREASE RISK, VARIANTS, GENOME, DELETIONS, GENETICS, APHASIA",
author = "Eduardo Perez-Palma and Ingo Helbig and Klein, {Karl Martin} and Verneri Anttila and Heiko Horn and Reinthaler, {Eva Maria} and Padhraig Gormley and Andrea Ganna and Andrea Byrnes and Katharina Pernhorst and Toliat, {Mohammad R.} and Elmo Saarentaus and Howrigan, {Daniel P.} and Per Hoffman and Miquel, {Juan Francisco} and {De Ferrari}, {Giancarlo V.} and Peter Nuernberg and Holger Lerche and Fritz Zimprich and Neubauer, {Bern A.} and Becker, {Albert J.} and Felix Rosenow and Emilio Perucca and Federico Zara and Weber, {Yvonne G.} and Dennis Lal",
year = "2017",
month = "9",
doi = "10.1136/jmedgenet-2016-104495",
language = "English",
volume = "54",
pages = "598--606",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group Ltd",
number = "9",

}

Perez-Palma, E, Helbig, I, Klein, KM, Anttila, V, Horn, H, Reinthaler, EM, Gormley, P, Ganna, A, Byrnes, A, Pernhorst, K, Toliat, MR, Saarentaus, E, Howrigan, DP, Hoffman, P, Miquel, JF, De Ferrari, GV, Nuernberg, P, Lerche, H, Zimprich, F, Neubauer, BA, Becker, AJ, Rosenow, F, Perucca, E, Zara, F, Weber, YG & Lal, D 2017, 'Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies', Journal of Medical Genetics, vol. 54, no. 9, pp. 598-606. https://doi.org/10.1136/jmedgenet-2016-104495

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. / Perez-Palma, Eduardo; Helbig, Ingo; Klein, Karl Martin; Anttila, Verneri; Horn, Heiko; Reinthaler, Eva Maria; Gormley, Padhraig; Ganna, Andrea; Byrnes, Andrea; Pernhorst, Katharina; Toliat, Mohammad R.; Saarentaus, Elmo; Howrigan, Daniel P.; Hoffman, Per; Miquel, Juan Francisco; De Ferrari, Giancarlo V.; Nuernberg, Peter; Lerche, Holger; Zimprich, Fritz; Neubauer, Bern A.; Becker, Albert J.; Rosenow, Felix; Perucca, Emilio; Zara, Federico; Weber, Yvonne G.; Lal, Dennis.

In: Journal of Medical Genetics, Vol. 54, No. 9, 09.2017, p. 598-606.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

AU - Perez-Palma, Eduardo

AU - Helbig, Ingo

AU - Klein, Karl Martin

AU - Anttila, Verneri

AU - Horn, Heiko

AU - Reinthaler, Eva Maria

AU - Gormley, Padhraig

AU - Ganna, Andrea

AU - Byrnes, Andrea

AU - Pernhorst, Katharina

AU - Toliat, Mohammad R.

AU - Saarentaus, Elmo

AU - Howrigan, Daniel P.

AU - Hoffman, Per

AU - Miquel, Juan Francisco

AU - De Ferrari, Giancarlo V.

AU - Nuernberg, Peter

AU - Lerche, Holger

AU - Zimprich, Fritz

AU - Neubauer, Bern A.

AU - Becker, Albert J.

AU - Rosenow, Felix

AU - Perucca, Emilio

AU - Zara, Federico

AU - Weber, Yvonne G.

AU - Lal, Dennis

PY - 2017/9

Y1 - 2017/9

KW - COPY NUMBER VARIATION

KW - AUTISM SPECTRUM DISORDERS

KW - ROLANDIC EPILEPSY

KW - GRIN2A MUTATIONS

KW - INCREASE RISK

KW - VARIANTS

KW - GENOME

KW - DELETIONS

KW - GENETICS

KW - APHASIA

U2 - 10.1136/jmedgenet-2016-104495

DO - 10.1136/jmedgenet-2016-104495

M3 - Article

VL - 54

SP - 598

EP - 606

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 9

ER -