Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Issue 1 (21st December 2018)

• Record Type: Journal Article
• Authors: Nabbout, Rima; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D´Amato, Lisa; d'Augères, Guillaume Beaure; de Vries, Petrus J.; Ferreira, José C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, John C.
• Other Names: Shinohara Nobuo investigator.; Horie Shigeo investigator.; Kubota Masaya investigator.; Tohyama Jun investigator.; Imai Katsumi investigator.; Kaneda Mari investigator.; Kaneko Hideo investigator.; Uchida Yasushi investigator.; Endo Shoichi investigator.; Inoue Yoshikazu investigator.; Uruno Katsuhisa investigator.; Serdaroglu Ayse investigator.; Yapici Zuhal investigator.; Anlar Banu investigator.; Altunbasak Sakir investigator.; Lvova Olga investigator.; Valeryevich Belyaev Oleg investigator.; Agranovich Oleg investigator.; Vladislavovna Levitina Elena investigator.; Vladimirovna Maksimova Yulia investigator.; Karas Antonina investigator.; Jiang Yuwu investigator.; Zou Liping investigator.; Xu Kaifeng investigator.; Zhang Yushi investigator.; Luan Guoming investigator.; Zhang Yuqin investigator.; Wang Yi investigator.; Jin Meiling investigator.; Ye Dingwei investigator.; Liao Weiping investigator.; Zhou Liemin investigator.; Liu Jie investigator.; Liao Jianxiang investigator.; YAN Bo investigator.; Deng Yanchun investigator.; Jiang Li investigator.; Liu Zhisheng investigator.; Huang Shaoping investigator.; Li Hua investigator.; Kim Kijoong investigator.; Chen Pei‐Lung investigator.; Lee Hsiu‐Fen investigator.; Tsai Jeng‐Dau investigator.; Chi Ching‐Shiang investigator.; Huang Chao‐Ching investigator.; Riney Kate investigator.; Yates Deborah investigator.; Kwan Patrick investigator.; Likasitwattanakul Surachai investigator.; Nabangchang Charcrin investigator.; Thampratankul Krisnachai Chomtho Lunliya investigator.; Katanyuwong Kamornwan investigator.; Sriudomkajorn Somjit investigator.; Wilmshurst Jo investigator.; Segel Reeval investigator.; Gilboa Tal investigator.; Tzadok Michal investigator.; Fattal‐Valevski Aviva investigator.; Papathanasopoulos Panagiotis investigator.; Syrigou Papavasiliou Antigone investigator.; Giannakodimos Stylianos investigator.; Gatzonis Stylianos investigator.; Pavlou Evangelos investigator.; Tzoufi Meropi investigator.; Dhooghe Marc investigator.; Verhelst Hélène investigator.; Roelens Filip investigator.; Cecile Nassogne Marie investigator.; Defresne Pierre investigator.; De Waele Liesbeth investigator.; Leroy Patricia investigator.; Demonceau Nathalie investigator.; Van Bogaert Patrick investigator.; Ceulemans Berten investigator.; Dom Lina investigator.; Castelnau Pierre investigator.; De Saint Martin Anne investigator.; Riquet Audrey investigator.; Milh Mathieu investigator.; Cances Claude investigator.; Pedespan Jean‐Michel investigator.; Ville Dorothee investigator.; Roubertie Agathe investigator.; Auvin Stéphane investigator.; Berquin Patrick investigator.; Richelme Christian investigator.; Allaire Catherine investigator.; Gueden Sophie investigator.; Nguyen The Tich Sylvie investigator.; Godet Bertrand investigator.; Rojas Maria Luz Ruiz Falco investigator.; Planas Jaume Campistol investigator.; Bermejo Antonio Martinez investigator.; Dura Patricia Smeyers investigator.; Aparicio Susana Roldan investigator.; Gonzalez Maria Jesus Martinez investigator.; Pison Javier Lopez investigator.; Blanco Barca Manuel Oscar investigator.; Laso Eduardo Lopez investigator.; Luengo Olga Alonso investigator.; Rodriguez Francisco Javier Aguirre investigator.; Dieguez Ignacio Malaga investigator.; Salas Ana Camacho investigator.; Carrera Itxaso Marti investigator.; Salcedo Eduardo Martinez investigator.; Petri Maria Eugenia Yoldi investigator.; Candela Ramon Cancho investigator.; Carrilho Ines da Conceicao investigator.; Vieira Jose Pedro investigator.; Monteiro José Paulo da Silva Oliveira investigator.; Leao Miguel Jorge Santos de Oliveira Ferreira investigator.; Luis Catarina Sofia Marceano Ribeiro investigator.; Pires Mendonca Carla investigator.; Endziniene Milda investigator.; Strautmanis Jurgis investigator.; Talvik Inga investigator.; Canevini Maria Paola investigator.; Gambardella Antonio investigator.; Pruna Dario investigator.; Buono Salvatore investigator.; Fontana Elena investigator.; Bernardina Bernardo Dalla investigator.; Burloiu Carmen investigator.; Cosma Iuliu Stefan Bacos investigator.; Vintan Mihaela Adela investigator.; Popescu Laura investigator.; Zitterbart Karel investigator.; Payerova Jaroslava investigator.; Bratsky Ladislav investigator.; Zilinska Zuzana investigator.; Gruber‐Sedlmayr Ursula investigator.; Haberlandt Edda investigator.; Rostasy Kevin investigator.; Pataraia Ekaterina investigator.; Elmslie Frances investigator.; Ann Johnston Clare investigator.; Crawford Pamela investigator.; Uldall Peter investigator.; Uvebrant Paul investigator.; Rask Olof investigator.; Bjoernvold Marit investigator.; Sloerdahl Andreas investigator.; Solhoff Ragnar investigator.; Jaatun Martine Sofie Gilje investigator.; Mandera Marek investigator.; Radzikowska Elzbieta Janina investigator.; Wysocki Mariusz investigator.; Fischereder Michael investigator.; Kurlemann Gerhard investigator.; Wilken Bernd investigator.; Wiemer‐Kruel Adelheid investigator.; Budde Klemens investigator.; Marquard Klaus investigator.; Knuf Markus investigator.; Hahn Andreas investigator.; Hartmann Hans investigator.; Merkenschlager Andreas investigator.; Trollmann Regina investigator.;
• Is Part Of: Epilepsia open. Volume 4:Issue 1(2019)
• Page Start: 73
• Page End: 84
• Publication Date: 2018-12-21
• Subjects: epilepsy -- registry -- TOSCA -- tuberous sclerosis complex; Epilepsy -- Periodicals; Epilepsy -- Research -- Periodicals; Epilepsy; Periodicals; Fulltext; Internet Resources; Periodicals; 616.853005
• DOI: 10.1002/epi4.12286
• Languages: English
• ISSNs: 2470-9239

Abstract

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.