Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Lisa-Marie Niestroj; Eduardo Perez-Palma; Daniel P Howrigan; Yadi Zhou; Feixiong Cheng; Elmo Saarentaus; Peter Nürnberg; Remi Stevelink; Mark J Daly; Aarno Palotie; Dennis Lal

doi:10.1093/brain/awaa171

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Lisa-Marie Niestroj, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J Daly, Aarno Palotie, Dennis Lal

Research output: Contribution to journal › Original Article › peer-review

48 Citations (Web of Science)

Original language	English
Pages (from-to)	2106-2118
Journal	BRAIN
Volume	143
Issue number	7
DOIs	https://doi.org/10.1093/brain/awaa171
Publication status	Published - 2020

Keywords

DE-NOVO MUTATIONS
15Q13.3 MICRODELETIONS
GENERALIZED EPILEPSY
16P13.11 PREDISPOSE
ILAE COMMISSION
INCREASE RISK
VARIANTS
CLASSIFICATION
DUPLICATIONS
ASSOCIATION

Access to Document

10.1093/brain/awaa171

Cite this

Niestroj, L.-M., Perez-Palma, E., Howrigan, D. P., Zhou, Y., Cheng, F., Saarentaus, E., Nürnberg, P., Stevelink, R., Daly, M. J., Palotie, A., & Lal, D. (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. BRAIN , 143(7), 2106-2118. https://doi.org/10.1093/brain/awaa171

Niestroj, Lisa-Marie ; Perez-Palma, Eduardo ; Howrigan, Daniel P et al. / Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. In: BRAIN 2020 ; Vol. 143, No. 7. pp. 2106-2118.

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title = "Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.",

keywords = "DE-NOVO MUTATIONS, 15Q13.3 MICRODELETIONS, GENERALIZED EPILEPSY, 16P13.11 PREDISPOSE, ILAE COMMISSION, INCREASE RISK, VARIANTS, CLASSIFICATION, DUPLICATIONS, ASSOCIATION",

author = "Lisa-Marie Niestroj and Eduardo Perez-Palma and Howrigan, {Daniel P} and Yadi Zhou and Feixiong Cheng and Elmo Saarentaus and Peter N{\"u}rnberg and Remi Stevelink and Daly, {Mark J} and Aarno Palotie and Dennis Lal",

note = "Kluger: Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany 53Research Institute Rehabilitation / Transition / Palliation, PMU Salzburg, Austria",

year = "2020",

doi = "10.1093/brain/awaa171",

language = "English",

volume = "143",

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journal = "BRAIN ",

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Niestroj, L-M, Perez-Palma, E, Howrigan, DP, Zhou, Y, Cheng, F, Saarentaus, E, Nürnberg, P, Stevelink, R, Daly, MJ, Palotie, A & Lal, D 2020, 'Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.', BRAIN , vol. 143, no. 7, pp. 2106-2118. https://doi.org/10.1093/brain/awaa171

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. / Niestroj, Lisa-Marie; Perez-Palma, Eduardo; Howrigan, Daniel P et al.
In: BRAIN , Vol. 143, No. 7, 2020, p. 2106-2118.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

AU - Niestroj, Lisa-Marie

AU - Perez-Palma, Eduardo

AU - Howrigan, Daniel P

AU - Zhou, Yadi

AU - Cheng, Feixiong

AU - Saarentaus, Elmo

AU - Nürnberg, Peter

AU - Stevelink, Remi

AU - Daly, Mark J

AU - Palotie, Aarno

AU - Lal, Dennis

N1 - Kluger: Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany 53Research Institute Rehabilitation / Transition / Palliation, PMU Salzburg, Austria

PY - 2020

Y1 - 2020

KW - DE-NOVO MUTATIONS

KW - 15Q13.3 MICRODELETIONS

KW - GENERALIZED EPILEPSY

KW - 16P13.11 PREDISPOSE

KW - ILAE COMMISSION

KW - INCREASE RISK

KW - VARIANTS

KW - CLASSIFICATION

KW - DUPLICATIONS

KW - ASSOCIATION

U2 - 10.1093/brain/awaa171

DO - 10.1093/brain/awaa171

M3 - Original Article

C2 - 32568404

SN - 0006-8950

VL - 143

SP - 2106

EP - 2118

JO - BRAIN

JF - BRAIN

IS - 7

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Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E et al. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. BRAIN . 2020;143(7):2106-2118. doi: 10.1093/brain/awaa171