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; Albert J. Becker; Felix Rosenow; Emilio Perucca; Federico Zara; Yvonne G. Weber; Dennis Lal

doi:10.1136/jmedgenet-2016-104495

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. NeubauerAlbert J. Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G. Weber, Dennis Lal

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Medical Genetics
Volym	54
Utgåva	9
Sidor (från-till)	598-606
Antal sidor	9
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmedgenet-2016-104495
Status	Publicerad - sep 2017
Externt publicerad	Ja
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Åtkomst av dokument

10.1136/jmedgenet-2016-104495

Heterogeneous contributionSlutlig publicerad version, 555 KBLicens: CC BY-NC

Citera det här

Perez-Palma, E., Helbig, I., Klein, K. M., Anttila, V., Horn, H., Reinthaler, E. M., Gormley, P., Ganna, A., Byrnes, A., Pernhorst, K., Toliat, M. R., Saarentaus, E., Howrigan, D. P., Hoffman, P., Miquel, J. F., De Ferrari, G. V., Nuernberg, P., Lerche, H., Zimprich, F., ... 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. I: Journal of Medical Genetics. 2017 ; Vol. 54, Nr. 9. s. 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 = sep,

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, nr. 9, s. 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.

I: Journal of Medical Genetics, Vol. 54, Nr. 9, 09.2017, s. 598-606.

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer 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 -