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January 29, 2019; 92 (5) Article

Diagnostic yield of genetic tests in epilepsy

A meta-analysis and cost-effectiveness study

Iván Sánchez Fernández, Tobias Loddenkemper, Marina Gaínza-Lein, Beth Rosen Sheidley, Annapurna Poduri
First published January 4, 2019, DOI: https://doi.org/10.1212/WNL.0000000000006850
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Article Information

vol. 92 no. 5 e418-e428
DOI: 
https://doi.org/10.1212/WNL.0000000000006850
PubMed: 
30610098
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received April 8, 2018
  • Accepted in final form August 30, 2018
  • First Published January 4, 2019.

Article Versions

Copyright & Usage: 
© 2019 American Academy of Neurology

Author Disclosures

    1. Iván Sánchez Fernández, MD, MPH,
    2. Tobias Loddenkemper, MD,
    3. Marina Gaínza-Lein, MD,
    4. Beth Rosen Sheidley, MS, CGC and
    5. Annapurna Poduri, MD, MPH
  1. Iván Sánchez Fernández, MD, MPH,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Seizure, the European Journal of Epilepsy. Guest Editor for the Special Issue "Pediatric Convulsive Status Epilepticus". 2017-2018. No economic compensation.

    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. (1) Epilepsy Research Fund, (2) Fundacin Alfonso Martn Escudero (Grant for the study of Epileptic Encephalopathies), (3) HHV6 Foundation.

    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. Tobias Loddenkemper, MD,
    3. Scientific Advisory Boards:

    1. Tobias Loddenkemper serves on the Council (and as President) of the American Clinical Neurophysiology Society, on the American Board of Clinical Neurophysiology, as committee chair at the American Epilepsy Society (Special Interest Group and Investigator Workshop Committees), as founder and consortium PI of the pediatric status epilepticus research group (pSERG),

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Travel support to give grand rounds and lectures at several academic institutions, and at scientific meetings including AAN, AES, and ACNS as well as international meetings.

    Editorial Boards:

    1. serves as an Associate Editor for Wyllie?s Treatment of Epilepsy 6th and 7th editions,

    Patents:

    1. has submitted pending/approved patents for epilepsy diagnosis and seizure detection, as well as seizure prediction. Dr. Loddenkemper is co-inventor of the TriVox Health technology. In the future it is possible that this technology will be sold commercially. If this were to occur, Dr. Loddenkemper, and Boston Children?s Hospital might receive financial benefits in the form of compensation. As in all research studies, the hospital has taken steps designed to ensure that this potential for financial gain does not endanger research subjects or undercut the validity and integrity of the information learned by this research.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. He serves as a consultant for Zogenix, Engage, Amzell, Upsher Smith, Eisai, and Sunovion.

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. has received travel support for non-commercial academic presentations, symposia, and grand rounds nationally and internationally,

    Clinical procedures or imaging studies:

    1. performs Video EEG longterm monitoring, EEGs, and other electrophysiological studies at Boston Children's Hospital and bills for these procedures, evaluated pediatric neurology patients and bills for clinical care,

    Research Support, Commercial Entities:

    1. received research grants from Lundbeck, Eisai, Upsher- Smith, Sunovion, Mallinckrodt, Sage, and Pfizer,

    Research Support, Government Entities:

    1. NIH,

    Research Support, Academic Entities:

    1. Boston Children's Hospital and Harvard Medical School

    Research Support, Foundations and Societies:

    1. Epilepsy Research Fund, the Epilepsy Foundation of America, the Epilepsy Therapy Project, the Pediatric Epilepsy Research Foundation

    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. Marina Gaínza-Lein, MD,
    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. (1) Marina Gaiínza-Lein was funded by a Boston Children?s Hospital investigator-initiated study from Upsher-Smith Laboratories.

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Marina Gaínza-Lein was funded by the Epilepsy Research Fund.

    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. Beth Rosen Sheidley, MS, CGC and
    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. Annapurna Poduri, MD, MPH
    6. Scientific Advisory Boards:

    1. (1) Dravet Syndrome Foundation (2) Tevard Bio

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Epilepsia, Associate Editor (Genetics), 2013-present (2) Epilepsy Currents, Contributing Editor, 2013-present (3) Annals of Neurology, Editorial Board member, 2015- 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. Zogenix (fenfluramine trial)

    Research Support, Government Entities:

    1. NINDS (R01NS094596), Co-I 2016-present NICHD (U24HD093487), Co-PI, 2017-present NINDS (R01NS100766), PI, 2017-present

    Research Support, Academic Entities:

    1. During the period of the study, I was supported by the Boston Children's Hospital Translational Research Program.

    Research Support, Foundations and Societies:

    1. (1) Charles H. Hood Foundation (2) Tommy Fuss Center Innovation Program, Boston Children's Hospital (3) Citizens United for Research in Epilepsy

    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

  1. From the Epilepsy Genetics Program (B.R.S., A.P.), Division of Epilepsy and Clinical Neurophysiology (I.S.F., T.L., M.G.-L., B.R.S., A.P.), Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Child Neurology (I.S.F.), Hospital Sant Joan de Déu, Universidad de Barcelona, Spain; and Facultad de Medicina (M.G.-L.), Universidad Austral de Chile, Valdivia.
  1. Correspondence
    Dr. Poduri annapurna.poduri{at}childrens.harvard.edu
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