Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Antonietta Coppola, Elena Cellini, Elmo Saarentaus, Aarno Palotie, Anna-Elina Lehesjioki, Sarah von Spiczak

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalEpilepsia
Volume60
Issue number4
Pages (from-to)689-706
Number of pages18
ISSN0013-9580
DOIs
Publication statusPublished - Apr 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • array CGH
  • copy number variants
  • epilepsy genes
  • SNP array
  • DE-NOVO MUTATIONS
  • MOLECULAR CHARACTERIZATION
  • CHROMOSOMAL MICROARRAY
  • ILAE COMMISSION
  • ONSET EPILEPSY
  • RORB GENE
  • PATIENT
  • ENCEPHALOPATHY
  • DISABILITIES
  • PHENOTYPE
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry
  • 1184 Genetics, developmental biology, physiology

Cite this

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola, A., Cellini, E., Saarentaus, E., Palotie, A., ... von Spiczak, S. (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia, 60(4), 689-706. https://doi.org/10.1111/epi.14683
EuroEPINOMICS- RES Consortium ; EpiCNV Consortium ; Coppola, Antonietta ; Cellini, Elena ; Saarentaus, Elmo ; Palotie, Aarno ; Lehesjioki, Anna-Elina ; von Spiczak, Sarah. / Diagnostic implications of genetic copy number variation in epilepsy plus. In: Epilepsia. 2019 ; Vol. 60, No. 4. pp. 689-706.
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title = "Diagnostic implications of genetic copy number variation in epilepsy plus",
keywords = "array CGH, copy number variants, epilepsy genes, SNP array, DE-NOVO MUTATIONS, MOLECULAR CHARACTERIZATION, CHROMOSOMAL MICROARRAY, ILAE COMMISSION, ONSET EPILEPSY, RORB GENE, PATIENT, ENCEPHALOPATHY, DISABILITIES, PHENOTYPE, 3112 Neurosciences, 3124 Neurology and psychiatry, 1184 Genetics, developmental biology, physiology",
author = "{EuroEPINOMICS- RES Consortium} and {EpiCNV Consortium} and Antonietta Coppola and Elena Cellini and Hannah Stamberger and Elmo Saarentaus and Valentina Cetica and Dennis Lal and Tania Djemie and Magdalena Bartnik-Glaska and Berten Ceulemans and Cross, {J. Helen} and Tine Deconinck and {De Masi}, Salvatore and Thomas Dorn and Renzo Guerrini and Dorotha Hoffman-Zacharska and Frank Kooy and Lieven Lagae and Nicholas Lench and Lemke, {Johannes R.} and Ersilia Lucenteforte and Francesca Madia and Mefford, {Heather C.} and Deborah Morrogh and Peter Nuernberg and Aarno Palotie and An-Sofie Schoonjans and Pasquale Striano and Elzbieta Szczepanik and Anna Tostevin and Vermeesch, {Joris R.} and {Van Esch}, Hilde and {Van Paesschen}, Wim and Waters, {Jonathan J.} and Sarah Weckhuysen and Federico Zara and Jonghe, {Peter De} and Sisodiya, {Sanjay M.} and Carla Marini and Anna-Elina Lehesjioki and Dana Craiu and Tiina Talvik and Hande Caglayan and Jose Serratosa and Katalin Sterbova and Moller, {Rikke S.} and Helle Hjalgrim and Holger Lerche and Yvonne Weber and Ingo Helbig and {von Spiczak}, Sarah",
year = "2019",
month = "4",
doi = "10.1111/epi.14683",
language = "English",
volume = "60",
pages = "689--706",
journal = "Epilepsia",
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EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola, A, Cellini, E, Saarentaus, E, Palotie, A, Lehesjioki, A-E & von Spiczak, S 2019, 'Diagnostic implications of genetic copy number variation in epilepsy plus' Epilepsia, vol. 60, no. 4, pp. 689-706. https://doi.org/10.1111/epi.14683

Diagnostic implications of genetic copy number variation in epilepsy plus. / EuroEPINOMICS- RES Consortium; EpiCNV Consortium; Coppola, Antonietta; Cellini, Elena; Saarentaus, Elmo; Palotie, Aarno; Lehesjioki, Anna-Elina; von Spiczak, Sarah.

In: Epilepsia, Vol. 60, No. 4, 04.2019, p. 689-706.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Diagnostic implications of genetic copy number variation in epilepsy plus

AU - EuroEPINOMICS- RES Consortium

AU - EpiCNV Consortium

AU - Coppola, Antonietta

AU - Cellini, Elena

AU - Stamberger, Hannah

AU - Saarentaus, Elmo

AU - Cetica, Valentina

AU - Lal, Dennis

AU - Djemie, Tania

AU - Bartnik-Glaska, Magdalena

AU - Ceulemans, Berten

AU - Cross, J. Helen

AU - Deconinck, Tine

AU - De Masi, Salvatore

AU - Dorn, Thomas

AU - Guerrini, Renzo

AU - Hoffman-Zacharska, Dorotha

AU - Kooy, Frank

AU - Lagae, Lieven

AU - Lench, Nicholas

AU - Lemke, Johannes R.

AU - Lucenteforte, Ersilia

AU - Madia, Francesca

AU - Mefford, Heather C.

AU - Morrogh, Deborah

AU - Nuernberg, Peter

AU - Palotie, Aarno

AU - Schoonjans, An-Sofie

AU - Striano, Pasquale

AU - Szczepanik, Elzbieta

AU - Tostevin, Anna

AU - Vermeesch, Joris R.

AU - Van Esch, Hilde

AU - Van Paesschen, Wim

AU - Waters, Jonathan J.

AU - Weckhuysen, Sarah

AU - Zara, Federico

AU - Jonghe, Peter De

AU - Sisodiya, Sanjay M.

AU - Marini, Carla

AU - Lehesjioki, Anna-Elina

AU - Craiu, Dana

AU - Talvik, Tiina

AU - Caglayan, Hande

AU - Serratosa, Jose

AU - Sterbova, Katalin

AU - Moller, Rikke S.

AU - Hjalgrim, Helle

AU - Lerche, Holger

AU - Weber, Yvonne

AU - Helbig, Ingo

AU - von Spiczak, Sarah

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KW - copy number variants

KW - epilepsy genes

KW - SNP array

KW - DE-NOVO MUTATIONS

KW - MOLECULAR CHARACTERIZATION

KW - CHROMOSOMAL MICROARRAY

KW - ILAE COMMISSION

KW - ONSET EPILEPSY

KW - RORB GENE

KW - PATIENT

KW - ENCEPHALOPATHY

KW - DISABILITIES

KW - PHENOTYPE

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1111/epi.14683

DO - 10.1111/epi.14683

M3 - Article

VL - 60

SP - 689

EP - 706

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 4

ER -

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola A, Cellini E, Saarentaus E, Palotie A et al. Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia. 2019 Apr;60(4):689-706. https://doi.org/10.1111/epi.14683