Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource

doi:10.1016/j.ajhg.2019.03.005

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource

科研成果: 期刊稿件 › 文章 › 同行评审

源语言	英语
页（从-至）	948-956
页数	9
期刊	American Journal of Human Genetics
卷	104
期	5
DOI	https://doi.org/10.1016/j.ajhg.2019.03.005
出版状态	已出版 - 5月 2 2019
已对外发布	是

!!!ASJC Scopus Subject Areas

遗传学
遗传学（临床）

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10.1016/j.ajhg.2019.03.005

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@article{7bed052f7b3a4f898bade68145669232,

title = "Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia",

author = "{Deciphering Developmental Disorders Study} and {UK10K Consortium} and {NIHR BioResource} and Gorman, {Kathleen M.} and Esther Meyer and Detelina Grozeva and Egidio Spinelli and Amy McTague and Alba Sanchis-Juan and Carss, {Keren J.} and Emily Bryant and Adi Reich and Schneider, {Amy L.} and Pressler, {Ronit M.} and Simpson, {Michael A.} and Debelle, {Geoff D.} and Evangeline Wassmer and Jenny Morton and Diana Sieciechowicz and Eric Jan-Kamsteeg and Paciorkowski, {Alex R.} and King, {Mary D.} and Cross, {J. Helen} and Annapurna Poduri and Mefford, {Heather C.} and Scheffer, {Ingrid E.} and Haack, {Tobias B.} and Gary McCullagh and McRae, {Jeremy F.} and Stephen Clayton and Fitzgerald, {Tomas W.} and Joanna Kaplanis and Elena Prigmore and Diana Rajan and Alejandro Sifrim and Stuart Aitken and Nadia Akawi and Mohsan Alvi and Kirsty Ambridge and Barrett, {Daniel M.} and Tanya Bayzetinova and Philip Jones and Jones, {Wendy D.} and Daniel King and Netravathi Krishnappa and Mason, {Laura E.} and Tarjinder Singh and Tivey, {Adrian R.} and Munaza Ahmed and Uruj Anjum and Hayley Archer and Ruth Armstrong and Jana Awada",

note = "Funding Information: We thank our patients and their families for participating in this study. MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas{\textquoteright} National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship). Funding Information: We thank our patients and their families for participating in this study. MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust , Great Ormond Street Children's Hospital Charity , and Rosetrees Trust . E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity . K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital , the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre . K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases . The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003 ), a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute (grant number WT098051 ). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre . J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre , an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve . I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship). Funding Information: A.R. is an employee of GeneDx, a wholly owned subsidiary of OPKO Health. I.S. has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia and Xenon Pharmaceuticals; editorial boards of the Annals of Neurology, Neurology and Epileptic Disorders; might accrue future revenue on pending patent WO61/010176 (filed in 2008) for Therapeutic Compound; has received speaker honoraria from GlaxoSmithKline, Athena Diagnostics, UCB, BioMarin, Eisai, and Transgenomics; has received funding for travel from Athena Diagnostics, UCB, Biocodex, GlaxoSmithKline, Biomarin and Eisai; and receives or has received research support from the National Health and Medical Research Council of Australia, National Institutes of Health, Australian Research Council, Health Research Council of New Zealand, CURE, and March of Dimes. J.J.M. reports honoraria as an editor from the American Academy of Neurology; royalties from Up-To-Date and BMJ Best Practice, honoraria for speaking for Invitae, BioMarin, Greenwich, Sunovion, and Mallinkrodt; consulting for Esai, Xenon, and Ionis; research grants from UCB, NIH, and Citizens United for Research in Epilepsy; all of these are outside of the current work. All other authors declare no competing interests . Publisher Copyright: {\textcopyright} 2019 American Society of Human Genetics",

year = "2019",

month = may,

day = "2",

doi = "10.1016/j.ajhg.2019.03.005",

language = "English",

volume = "104",

pages = "948--956",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

TY - JOUR

T1 - Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

AU - Deciphering Developmental Disorders Study

AU - UK10K Consortium

AU - NIHR BioResource

AU - Gorman, Kathleen M.

AU - Meyer, Esther

AU - Grozeva, Detelina

AU - Spinelli, Egidio

AU - McTague, Amy

AU - Sanchis-Juan, Alba

AU - Carss, Keren J.

AU - Bryant, Emily

AU - Reich, Adi

AU - Schneider, Amy L.

AU - Pressler, Ronit M.

AU - Simpson, Michael A.

AU - Debelle, Geoff D.

AU - Wassmer, Evangeline

AU - Morton, Jenny

AU - Sieciechowicz, Diana

AU - Jan-Kamsteeg, Eric

AU - Paciorkowski, Alex R.

AU - King, Mary D.

AU - Cross, J. Helen

AU - Poduri, Annapurna

AU - Mefford, Heather C.

AU - Scheffer, Ingrid E.

AU - Haack, Tobias B.

AU - McCullagh, Gary

AU - McRae, Jeremy F.

AU - Clayton, Stephen

AU - Fitzgerald, Tomas W.

AU - Kaplanis, Joanna

AU - Prigmore, Elena

AU - Rajan, Diana

AU - Sifrim, Alejandro

AU - Aitken, Stuart

AU - Akawi, Nadia

AU - Alvi, Mohsan

AU - Ambridge, Kirsty

AU - Barrett, Daniel M.

AU - Bayzetinova, Tanya

AU - Jones, Philip

AU - Jones, Wendy D.

AU - King, Daniel

AU - Krishnappa, Netravathi

AU - Mason, Laura E.

AU - Singh, Tarjinder

AU - Tivey, Adrian R.

AU - Ahmed, Munaza

AU - Anjum, Uruj

AU - Archer, Hayley

AU - Armstrong, Ruth

AU - Awada, Jana

N1 - Funding Information: We thank our patients and their families for participating in this study. MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas’ National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship). Funding Information: We thank our patients and their families for participating in this study. MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust , Great Ormond Street Children's Hospital Charity , and Rosetrees Trust . E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity . K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital , the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre . K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases . The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003 ), a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute (grant number WT098051 ). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre . J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre , an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve . I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship). Funding Information: A.R. is an employee of GeneDx, a wholly owned subsidiary of OPKO Health. I.S. has served on scientific advisory boards for UCB, Eisai, GlaxoSmithKline, BioMarin, Nutricia and Xenon Pharmaceuticals; editorial boards of the Annals of Neurology, Neurology and Epileptic Disorders; might accrue future revenue on pending patent WO61/010176 (filed in 2008) for Therapeutic Compound; has received speaker honoraria from GlaxoSmithKline, Athena Diagnostics, UCB, BioMarin, Eisai, and Transgenomics; has received funding for travel from Athena Diagnostics, UCB, Biocodex, GlaxoSmithKline, Biomarin and Eisai; and receives or has received research support from the National Health and Medical Research Council of Australia, National Institutes of Health, Australian Research Council, Health Research Council of New Zealand, CURE, and March of Dimes. J.J.M. reports honoraria as an editor from the American Academy of Neurology; royalties from Up-To-Date and BMJ Best Practice, honoraria for speaking for Invitae, BioMarin, Greenwich, Sunovion, and Mallinkrodt; consulting for Esai, Xenon, and Ionis; research grants from UCB, NIH, and Citizens United for Research in Epilepsy; all of these are outside of the current work. All other authors declare no competing interests . Publisher Copyright: © 2019 American Society of Human Genetics

PY - 2019/5/2

Y1 - 2019/5/2

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UR - http://www.scopus.com/inward/citedby.url?scp=85064910539&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2019.03.005

DO - 10.1016/j.ajhg.2019.03.005

M3 - Article

C2 - 30982612

AN - SCOPUS:85064910539

SN - 0002-9297

VL - 104

SP - 948

EP - 956

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

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