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January 02, 2018; 90 (1) Article

Precision therapy for epilepsy due to KCNT1 mutations

A randomized trial of oral quinidine

Saul A. Mullen, Patrick W. Carney, Annie Roten, Michael Ching, Paul A. Lightfoot, Leonid Churilov, Umesh Nair, Melody Li, Samuel F. Berkovic, Steven Petrou, Ingrid E. Scheffer
First published December 1, 2017, DOI: https://doi.org/10.1212/WNL.0000000000004769
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Article Information

vol. 90 no. 1 e67-e72
DOI: 
https://doi.org/10.1212/WNL.0000000000004769
PubMed: 
29196578
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received May 21, 2017
  • Accepted in final form September 15, 2017
  • First Published December 1, 2017.

Article Versions

Copyright & Usage: 
Copyright © 2017 American Academy of Neurology

Author Disclosures

    1. Saul A. Mullen, MBBS, PhD,
    2. Patrick W. Carney, MBBS, PhD,
    3. Annie Roten, BAppSc,
    4. Michael Ching, MPharm, PhD,
    5. Paul A. Lightfoot, BSc,
    6. Leonid Churilov, PhD,
    7. Umesh Nair, BSc,
    8. Melody Li, PhD,
    9. Samuel F. Berkovic, MBBS, MD,
    10. Steven Petrou, PhD and
    11. Ingrid E. Scheffer, MBBS, PhD
  1. Saul A. Mullen, MBBS, PhD,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Florey Institute of Neuroscience and Mental Health, University of Melbourne, Australia Austin Health, Melbourne, Australia Eastern Health, Melbourne, Australia

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NHMRC Early Career Fellowship (1072081) NHMRC Project Grant (1062538)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Patrick W. Carney, MBBS, PhD,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Annie Roten, BAppSc,
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Michael Ching, MPharm, PhD,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Paul A. Lightfoot, BSc,
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Leonid Churilov, PhD,
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Journal of Decision Systems, editorial board member, 2006-current (2) International Journal of Stroke, editorial board member, 2008-current (3) Operations Research for Health Care, editorial board member, 2011-current (4) Health Systems, editorial board member, 2012-current (5) Health Care Management Science, editorial board member, 2012-current

    Patents:

    1. NONE

    Publishing Royalties:

    1. Discrete-event simulation and system dynamics for management decision making, Wiley, 2015

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) Australian National Health and Medical Research Council; APP1113352; Associate Investigator; 2017-2022; (2) Australian National Health and Medical Research Council; APP1134495; Chief Investigator I; 2017-2021; (3) Australian National Health and Medical Research Council; APP1126070; Chief Investigator D; 2017-2020; (4) Australian National Health and Medical Research Council; APP1079179; Associate Investigator; 2015-2020; (5) Australian National Health and Medical Research Council; APP1094974; Chief Investigator I; 2015-2020; (6) Australian National Health and Medical Research Council; APP1081718; Associate Investigator; 2015-2018

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Diabetes Australia; MS Research Australia; National Stroke Foundation Australia

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Umesh Nair, BSc,
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  8. Melody Li, PhD,
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Samuel F. Berkovic, MBBS, MD,
    10. Scientific Advisory Boards:

    1. UCB Pharma Eisai, Australia

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Brain (Editorial Board ? 2000 - 2004; Advisory Board 2005-2016 ) Epileptic Disorders (1999- ) Lancet Neurology (2011- )

    Patents:

    1. I am one of the inventors listed on a patent held by Bionomics Inc on diagnostic testing of using the SCN1A gene. International publication number WO2006/133508; filed 16/06/2006. I am one of the inventors on pending patent WO61/010176: Therapeutic Compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. UCB unrestricted research grant SciGen unrestricted research grant Eisai unrestricted research grant

    Research Support, Government Entities:

    1. National Health and Medical Research Council of Australia (Program Grant #1091593; 2016-2020) NINDS (U01 NS077367-01; 2011-2014)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  10. Steven Petrou, PhD and
    11. Scientific Advisory Boards:

    1. Pairnomix RogCon Praxis Precision Medicines

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. PLOS Genetics Associate Editor, 2013-Present Neurobiology of Disease, Editorial Board Member, 2008-Present

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. RogCon. $1.5M

    Research Support, Government Entities:

    1. 2016 Ion Channel Drug Screening. TIA NCRIS. Petrou and Milligan. $39,000 Chief Investigator 2016-2018 ARC DP160104193. Clarity and MRI. Connelly and Petrou. $455,700 Chief Investigator 2016-2018 NHMRC Project APP1106027. Modelling epileptic encephalopathies using induced stem cells. Petrou and Pera $506,489 Chief Investigator 2016-2020 NHMRC Principal Research Fellowship. Targeted therapy in genetic epilepsy. Petrou. $753,300. Chief Investigator 2016-2021 NHMRC Program Grant Precision Medicine in Genetic Epilepsy. $15,000,000 Chief Investigator 2014-2021 ARC Centre of Excellence for Integrative Brain Function (CIBF). $12,000,000 Chief Investigator

    Research Support, Academic Entities:

    1. The University of Melbourne, $2.5M

    Research Support, Foundations and Societies:

    1. 2016 DHB foundation. Glass brain imaging: Building a roadmap to the brain. Petrou S. $300K 2016 SCN2A Research Foundation, $500K

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  11. Ingrid E. Scheffer, MBBS, PhD
    12. Scientific Advisory Boards:

    1. (1) Ramaciotti foundation - Scientific Advisory Committee 2014, 2015

    Gifts:

    1. 2014 Prime Ministers Prize For Science

    Funding for travel or speaker honoraria:

    1. Travel (1) Zogenix: USA 2016 (2) Sanofi: China 2015 (3) UCB; Japan 2015 (4) GSK; Japan 2015 Honoraria (1) Eisai: 2015 (2) Sanofi 2015 (3) UCB: 2015, 2014 (4) GSK; Japan 2015

    Editorial Boards:

    1. (1) Neurology, Editorial Board, 2014-present (2) Epilepsy Currents, Editorial Board, 2014-present (3) Annals of Neurology, Editorial Board, 2007-2015 (4) Epileptic Disorders, Editorial Board, 2006-present (5) Progress in Epileptic Disorders series, Editorial Board, 2005-present (6) Virtual Neuro Centre, Editorial Board, 2005-present

    Patents:

    1. Has received revenue for: (1) Diagnostic and therapeutic methods for EFMR (2) A Diagnostic Method for Epilepsy Issued

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) NHMRC Program Grant 2016-2020 (2) NHMRC Practitioner Fellowship 2016- 2020 (3) NHMRC Project Grant 2016-2020

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Epilepsy Association of Tasmania 2013-2015 (2) Melbourne Neurosciences Institute 2014 (3) Weizmann Institute 2013-2014 (4) March of Dimes 2015-2016 (5) Rebecca L Cooper Medical Research Foundation 2016 (6) Health Research Council New Zealand 2015-2018 (7) March Of Dimes Foundation 2015-2017

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. Diagnostic and Therapeutic Methods for EFMR (Epilepsy and Mental Retardation Limited to Females)

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From The Florey Institute of Neuroscience and Mental Health (S.A.M., P.W.C., L.C., U.N., M.L., S.P.), Epilepsy Research Centre, Department of Medicine (S.A.M., A.R., P.A.L., S.F.B., I.E.S.), and Department of Paediatrics, Royal Children's Hospital (I.E.S.), University of Melbourne; Department of Medicine (S.A.M., A.R., P.A.L., S.F.B., I.E.S.), and Department of Pharmacy (M.C.), Austin Health; and Department of Medicine (P.W.C.), Monash University and Eastern Health, Melbourne, Australia.
  1. Correspondence
    Dr. Scheffer scheffer{at}unimelb.edu.au
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