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      Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

      research-article
      1 , , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 8 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , the TOSCA Consortium and TOSCA Investigators
      Epilepsia Open
      John Wiley and Sons Inc.
      epilepsy, registry, TOSCA, tuberous sclerosis complex

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          Summary

          Objective

          To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness ( TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex ( TSC).

          Methods

          Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice.

          Results

          Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median <1 year; range <1‐30 years) and at diagnosis of focal seizures was 2.7 years (median 1 year; range <1‐66 years). A total of 1469 patients (79.3%) were diagnosed with epilepsy <2 years. The rate of infantile spasms was higher in patients with a TSC 2 mutation than in patients with a TSC1  mutation (47.3% vs 23%). ɣ‐aminobutyric acid (GABA) ergic drugs were the most common treatment modality for both infantile spasms (78.7%) and focal seizures (65.5%). Infantile spasms and focal seizures were controlled in 76.3% and 58.2% of patients, respectively. Control of seizures was associated with lower rates of intellectual disability in both groups.

          Significance

          This registry reports the largest international cohort of patients with TSC. Findings confirmed the typical onset pattern of infantile spasms and other focal seizures in the first 2 years of life, and the high rates of infantile spasms in patients with TSC2 mutation. Our results underscored the occurrence of focal seizures at all ages, including an onset that preceded emergence of infantile spasms. Seizure control was shown to be associated with lower rates of intellectual disability but did not preclude the presence of intellectual disability.

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          Most cited references31

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          Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

          The Lancet, 388(10056), 2153-2163
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            Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.

            Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant "treatment gap" and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex.
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              • Abstract: found
              • Article: found

              Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.

              Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. Hormonal therapies or vigabatrin are the most commonly used treatments. We aimed to assess whether combining the treatments would be more effective than hormonal therapy alone.
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                Author and article information

                Contributors
                rimanabbout@yahoo.com
                Journal
                Epilepsia Open
                Epilepsia Open
                10.1002/(ISSN)2470-9239
                EPI4
                Epilepsia Open
                John Wiley and Sons Inc. (Hoboken )
                2470-9239
                21 December 2018
                March 2019
                : 4
                : 1 ( doiID: 10.1002/epi4.2019.4.issue-1 )
                : 73-84
                Affiliations
                [ 1 ] Department of Pediatric Neurology Necker Enfants Malades Hospital Paris Descartes University Paris France
                [ 2 ] Research and Clinical Institute of Pediatrics Pirogov Russian National Research Medical University Moscow Russian Federation
                [ 3 ] SPS Paediatric Clinic Ljubljana Slovenia
                [ 4 ] TSA Tuberous Sclerosis Association Nottingham UK
                [ 5 ] Hôpital Louis Pradel Claude Bernard University Lyon 1 Lyon France
                [ 6 ] Tor Vergata University Hospital Rome Italy
                [ 7 ] Karolinska University Hospital Stockholm Sweden
                [ 8 ] Novartis Farma S.p.A. Origgio Italy
                [ 9 ] Tuberous Sclerosis Association of Bourneville Gradignan France
                [ 10 ] Division of Child and Adolescent Psychiatry University of Cape Town Cape Town South Africa
                [ 11 ] Centro Hospitalar Lisboa Ocidental Lisbon Portugal
                [ 12 ] Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria
                [ 13 ] Tuberous Sclerosis Association ONLUS Milan Italy
                [ 14 ] European Tuberous Sclerosis Complex Association In den Birken Dattein Germany
                [ 15 ] Vivantes Hospital Neukoelln Berlin Germany
                [ 16 ] Department of Child Neurology Warsaw Medical University Warsaw Puerto Rico
                [ 17 ] Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Puerto Rico
                [ 18 ] The Tuberous Sclerosis Multidisciplinary Management Clinic Sydney Children's Hospital Randwick NSW Australia
                [ 19 ] Vall d’Hebron University Hospital Barcelona Spain
                [ 20 ] Institute of Biomedicine (IBIOMED) University of Leon León Spain
                [ 21 ] Institute of Child Health University College London London UK
                [ 22 ] Department of Pediatrics Peking University People's Hospital (PKUPH) Beijing China
                [ 23 ] Tallinn Children Hospital Tallinn Estonia
                [ 24 ] Clinic Group Kempten‐Oberallgaeu GmbH Kempten Germany
                [ 25 ] Novartis Healthcare Pvt. Ltd. Hyderabad India
                [ 26 ] National Epilepsy Center Shizuoka Institute of Epilepsy and Neurological Disorders NHO Shizuoka Japan
                [ 27 ] Department of Genetics CHU‐Hôpital Nord Saint Etienne France
                [ 28 ] St. Sophia Children's Hospital Athens Greece
                [ 29 ] University Medical Center Utrecht The Netherlands
                [ 30 ] Pediatric Neurology Unit Department of Pediatrics UZ Brussel VUB Brussels Belgium
                [ 31 ] Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre St Georges University of London London UK
                Author notes
                [*] [* ] Correspondence

                Rima Nabbout, Centre de référence épilepsies rares (CReER), Service de Neurologie Pédiatrique, Hôpital Necker‐Enfants Malades, Université Paris Descartes, Paris, France.

                Email: rimanabbout@ 123456yahoo.com

                Article
                EPI412286
                10.1002/epi4.12286
                6398114
                30868117
                2573b4a2-97e7-465c-93c1-c87e655189a8
                © 2018 The Authors. Epilepsia Open published by Wiley Periodicals Inc. on behalf of International League Against Epilepsy.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                : 21 June 2018
                : 11 October 2018
                : 03 November 2018
                Page count
                Figures: 1, Tables: 4, Pages: 12, Words: 8986
                Funding
                Funded by: Novartis Pharma AG
                Categories
                Full‐length Original Research
                Full‐length Original Research
                Custom metadata
                2.0
                epi412286
                March 2019
                Converter:WILEY_ML3GV2_TO_NLMPMC version:5.6.1 mode:remove_FC converted:04.03.2019

                epilepsy,registry,tosca,tuberous sclerosis complex
                epilepsy, registry, tosca, tuberous sclerosis complex

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