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Clinical/Scientific Note
March 15, 2023
Open Access

New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant
Time for Acute Genetic Testing Before Treatment?

Elisabetta Indelicato, MD, PhD https://orcid.org/0000-0003-0217-8630, Johannes Pfeilstetter, MD, Michael Zech, MD, Iris Unterberger, MD https://orcid.org/0000-0001-6408-5777, Julia Wanschitz, MD, Steffen Berweck, MD, and Sylvia Boesch, PD, MD, MScAuthors Info & Affiliations
April 2023 issue
9 (2)
https://doi.org/10.1212/NXG.0000000000200063
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Information & Authors

Information

Published In

Neurology® Genetics
Volume 9 • Number 2 • April 2023

Copyright

Copyright © 2023 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 License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Publication History

Received: November 28, 2022
Accepted: January 25, 2023
Published online: March 15, 2023
Published in print: April 2023

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Disclosure

No disclosure related to the present manuscript. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

Study Funding

The authors report no targeted funding.

Authors

Affiliations & Disclosures

Elisabetta Indelicato, MD, PhD* https://orcid.org/0000-0003-0217-8630
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Johannes Pfeilstetter, MD*
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Michael Zech, MD
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Iris Unterberger, MD https://orcid.org/0000-0001-6408-5777
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Julia Wanschitz, MD
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Steffen Berweck, MD
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author
Sylvia Boesch, PD, MD, MSc
From the Center for Rare Movement Disorders Innsbruck (E.I., S. Boesch); Department of Neurology (E.I., I.U., J.W., S. Boesch), Medical University of Innsbruck, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation (J.P., S. Berweck), Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Institute of Neurogenomics (M.Z.), Helmholtz Zentrum München; Institute of Human Genetics (M.Z.), School of Medicine, Technical University of Munich; and Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children´s Hospital (S. Berweck), Ludwig Maximilian University of Munich, Germany.
Disclosure
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
View all articles by this author

Notes

Correspondence Dr. Indelicato [email protected]
The Article Processing Charge was funded by the authors.
Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.
Submitted and externally peer reviewed. The handling editor was Associate Editor Massimo Pandolfo, MD, FAAN.
*
These authors contributed equally.

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Cited By
    • Sangbo Lee,
    • Se Hee Kim,
    • Heung Dong Kim,
    • Joon Soo Lee,
    • Ara Ko,
    • Hoon-Chul Kang,
    Identification of etiologies according to baseline clinical features of pediatric new-onset refractory status epilepticus in single center retrospective study, Seizure: European Journal of Epilepsy, 120, (49-55), (2024).https://doi.org/10.1016/j.seizure.2024.06.009
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  2. Multiple drugs, Reactions Weekly, 2033, 1, (177-177), (2024).https://doi.org/10.1007/s40278-024-70287-6
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