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Neurology Genetics
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August 2020; 6 (4) Clinical/Scientific NotesOpen Access

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

View ORCID ProfileMartin Paucar, Tobias Granberg, View ORCID ProfileKristina Lagerstedt-Robinson, Elisabet Waldenlind, Sven Petersson, Love Nordin, Per Svenningsson
First published July 7, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000474
Martin Paucar
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Tobias Granberg
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Kristina Lagerstedt-Robinson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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  • ORCID record for Kristina Lagerstedt-Robinson
Elisabet Waldenlind
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Sven Petersson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Love Nordin
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Per Svenningsson
From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
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Full PDF
Citation
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, Elisabet Waldenlind, Sven Petersson, Love Nordin, Per Svenningsson
Neurol Genet Aug 2020, 6 (4) e474; DOI: 10.1212/NXG.0000000000000474

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Article Information

vol. 6 no. 4 e474
DOI: 
https://doi.org/10.1212/NXG.0000000000000474

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received December 19, 2019
  • Accepted in final form May 28, 2020
  • First Published July 7, 2020.

Copyright & Usage: 
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Martin Paucar, MD, PhD,
    2. Tobias Granberg, MD, PhD,
    3. Kristina Lagerstedt-Robinson, PhD,
    4. Elisabet Waldenlind, MD, PhD,
    5. Sven Petersson, PhD,
    6. Love Nordin, PhD and
    7. Per Svenningsson, MD, PhD
  1. Martin Paucar, MD, 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. 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) Stockholm Region

    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. Tobias Granberg, MD, PhD,
  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. Research grants, 3 years, Stockholm Region and Karolinska Institutet (ALF 20170036, CIMED 20190565).

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. Research grant, 4 years, The Swedish Society for Medical Research. Research grant, The Christer Lindgren and Eva Fredholm 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

  5. Kristina Lagerstedt-Robinson, PhD,
  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

  7. Elisabet Waldenlind, MD, PhD,
  8. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Payment 15,000 SEK by Novartis for 3 lectures october 2019 given for the Swedish Headache Sociaty. Novartis sponsored the lectures

    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. Sven Petersson, PhD,
  10. 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

  11. Love Nordin, PhD and
  12. 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

  13. Per Svenningsson, MD, PhD
  14. Scientific Advisory Boards:
    1. CBD solutions AB

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Sanofi Genzyme, Shire

    Editorial Boards:
    1. PLoS ONE, Academic editor, 2012-2017 Neuropharmacology, Academic editor, 2016-2017

    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. Swedish Research Council 2016_2019 ALF Stockholm 2017_2019 Wallenberg Clinical Scholar 2017_2021

    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

  1. From the Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
  1. Correspondence
    Dr. Paucar martin.paucar-arce{at}sll.se
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