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February 2021; 7 (1) Views & ReviewsOpen Access

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

Renzo Guerrini, Mara Cavallin, Tommaso Pippucci, Anna Rosati, Francesca Bisulli, Paola Dimartino, Carmen Barba, Rita Garbelli, Anna Maria Buccoliero, Laura Tassi, Valerio Conti
First published December 9, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000540
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Article Information

vol. 7 no. 1 e540
DOI: 
https://doi.org/10.1212/NXG.0000000000000540
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received May 24, 2020
  • Accepted in final form October 21, 2020
  • First Published December 9, 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. Renzo Guerrini, MD, FRCP,
    2. Mara Cavallin, MD, PhD,
    3. Tommaso Pippucci, PhD,
    4. Anna Rosati, MD, PhD,
    5. Francesca Bisulli, MD,
    6. Paola Dimartino, MSc,
    7. Carmen Barba, MD, PhD,
    8. Rita Garbelli, PhD,
    9. Anna Maria Buccoliero, MD, PhD,
    10. Laura Tassi, MD and
    11. Valerio Conti, PhD
  1. Renzo Guerrini, MD, FRCP,
    2. Scientific Advisory Boards:

    1. Honoraria for Advisory Board activities and travel related expenses for: (1) Eisai Inc, (2) Novartis, (3) Zogenix, (4) Biomarin, (5) UCB, (6) GW Pharma, (7) Biocodex.

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) EISAI: funding for travel. (2) Novartis: funding for travel; (3) UCB: Funding for travel. (3) Biomarin: funding for travel, (4) Novartis: funding for travel, (5) GW funding for travel; (6) Zogenix: funding for traveling and reviewing scientific content of symposia.

    Editorial Boards:

    1. (1) Epilepsia: Associate Editor 2006-2013, (2) Progress in Epileptic Disorders, International Advisory Board, 2007- (3) Neuropediatrics, Editorial Board, 2001-2009 (4) Journal of Child Neurology, Editorial Board, 1995-2010, (5) Seizure, Editorial Board 2005-, (6) BMC Medical Genetics,Editorial Board, 2006-, (7) Topics in Epilepsy, Editorial Board, 2009- (8) Journal of Pediatric Epilepsy, Editorial Board, 2011- (9) Epileptic Disorders,Editorial Board, 1999-2012 (10) European Neurological Journal, Editorial Board, 2010- (11) Neurology, Editorial Board, 2013- (12) Journal of Embryology & Developmental Biology, 2016-

    Patents:

    1. NONE

    Publishing Royalties:

    1. (1) Epilepsy and Movements disorders, Cambridge University Press, 2002, (2) Aicardi's Epilepsy in Children, Lippincott Williams & Wilkins, 2004, (3) Progress in Epileptic Spasms and West Syndrome, John Libbey Eurotext, 2007, (4) Epilepsy and Migraine, John Libbey Eurotext, 2009, (5) The Causes of Epilepsy, Cambridge University Press, 2011. (6) Dravet syndrome, John Libbey Eurotext, 2011. (7) Epilepsy and epileptic seizures, Oxford University Press, 2012. (8) The Causes of Epilepsy 2nd edition, Cambridge University Press, 2019. (9) Epilepsy syndromes in Infancy, Childhood and Adolescence. 6th Edition. John Libbey Eurotext, 2019.

    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) EU contract number LSH-CT-2006-2011 037315 (EPICURE) FP6 - LIFESCIHEALTH. Subproject Coordinator (2) Tuscany Region. Research Department. Drug treatment and neuroprotection in hypoxic-ischemic brain injury and neonatal– infantile seizures. 2010-2013. Project Coordinator. (3) EC PROGRAM Rare disease: use of clinical trial simulation for the choice and optimization of study Design: Era-Net. 2011 – 2014. Unit Coordinator. (4) EC. Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development. EU PROGRAM: E-RARE2. 2012-2014. Unit Coordinator. (5) EC FP7, 2013-2018. DESIRE: Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy. Grant Agreement 6602531; Project Coordinator, 2013-2018. Italian Ministry of Health and Tuscany Region: An integrated approach to unravel the genetic causes and molecular pathogenesis of epileptogenic focal cortical dysplasia. RF-2013-02355240. 2016-2019. Project Coordinator.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Pisa Foundation. Grant Title: Development of technology for the diagnostic characterisation and post-chemotherapy- radiotherapy monitoring of paediatric brain tumours using ultra high field MRI. 2013-2016. Project Coordinator.

    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. Mara Cavallin, MD, 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. Tommaso Pippucci, 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. University of Bologna, Teaching activities

    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. Anna Rosati, MD, 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. Francesca Bisulli, MD,
    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. Italian Ministry of Health Young Investigators/434.025,00 Euros 16.316, grant number: RF-2016-02361365, Co-PI, 3 years

    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. Paola Dimartino, MSc,
    7. 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. Carmen Barba, MD, PhD,
    8. Scientific Advisory Boards:

    1. None

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. None

    Editorial Boards:

    1. Associate Editor, Epileptic Disorders

    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. Rita Garbelli, 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. Italian Ministry of Health,Grant/Award Number: RF-2016- 02362195

    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. Anna Maria Buccoliero, MD, 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

  10. Laura Tassi, MD and
    11. Scientific Advisory Boards:

    1. EISAI UCB

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Epileptic Disorders, Editorial advisory board, 2009-2010

    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. EU grant EPICURE contract N° LSHM-CT-2006.0373315.2007- 2010 and Grant from the Italian Ministry of Health (2008- 2010).

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Progetto Fondazioni Paolo Zorzi (2007-2010) Fondazione FBML (2007-2010)

    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. Valerio Conti, PhD
    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

  1. From the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (R. Guerrini, M.C., A.R, C.B., V.C.), Children's Hospital A. Meyer, University of Florence; Medical Genetics Unit (T.P.), Sant'Orsola-Malpighi University Hospital, Bologna; IRCCS Bologna Institute for Neurological Sciences (F.B.), Bologna. Member of ERN EpiCARE; Department of Medical and Surgical Sciences (P.D.), University of Bologna; Clinical Epileptology and Experimental Neurophysiology Unit (R. Garbelli), IRCCS Istituto Neurologico C. Besta, Milan; Pathology Unit (A.M.B.), Children's Hospital A. Meyer-University of Florence; and “C. Munari” Epilepsy Surgery Center (L.T.), Niguarda Hospital, Milan, Italy.
  1. Correspondence
    Prof. Guerrini r.guerrini{at}meyer.it
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