@article{3184793,
    title = "Clinical Characteristics of Subependymal Giant Cell Astrocytoma in
Tuberous Sclerosis Complex",
    author = "Jansen, Anna C. and Belousova, Elena and Benedik, Mirjana P. and Carter, and Tom and Cottin, Vincent and Curatolo, Paolo and Dahlin, Maria and and D'Amato, Lisa and d'Augeres, Guillaume Beaure and de Vries, Petrus J. and and Ferreira, Jose C. and Feucht, Martha and Fladrowski, Carla and and Hertzberg, Christoph and Jozwiak, Sergiusz and Lawson, John A. and and Macaya, Alfons and Marques, Ruben and Nabbout, Rima and O'Callaghan, and Finbar and Qin, Jiong and Sander, Valentin and Sauter, Matthias and and Shah, Seema and Takahashi, Yukitoshi and Touraine, Renaud and Youroukos, and Sotiris and Zonnenberg, Bernard and Kingswood, John C. and Shinohara, and Nobuo and Horie, Shigeo and Kubota, Masaya and Tohyama, Jun and Imai, and Katsumi and Kaneda, Mari and Kaneko, Hideo and Uchida, Yasushi and and Kirino, Tomoko and Endo, Shoichi and Inoue, Yoshikazu and Uruno, and Katsuhisa and Serdaroglu, Ayse and Yapici, Zuhal and Anlar, Banu and and Altunbasak, Sakir and Lvova, Olga and Belyaev, Oleg Valeryevich and and Agranovich, Oleg and Levitina, Elena Vladislavovna and Maksimova, Yulia and Vladimirovna and Karas, Antonina and Jiang, Yuwu and Zou, Liping and Xu, and Kaifeng and Zhang, Yushi and Luan, Guoming and Zhang, Yuqin and Wang, Yi and and Jin, Meiling and Ye, Dingwei and Liao, Weiping and Zhou, Liemin and and Liu, Jie and Liao, Jianxiang and Yan, Bo and Deng, Yanchun and Jiang, Li and and Liu, Zhisheng and Huang, Shaoping and Li, Hua and Kim, Kijoong and and Chen, Pei-Lung and Lee, Hsiu-Fen and Tsai, Jeng-Dau and Chi, and Ching-Shiang and Huang, Chao-Ching and Riney, Kate and Yates, Deborah and and Kwan, Patrick and Likasitwattanakul, Surachai and Nabangchang, and Charcrin and Chomtho, Lunliya Thampratankul Krisnachai and Katanyuwong, and Kamornwan and Sriudomkajorn, Somjit and Wilmshurst, Jo and Segel, Reeval and and Gilboa, Tal and Tzadok, Michal and Fattal-Valevski, Aviva and and Papathanasopoulos, Panagiotis and Papavasiliou, Antigone Syrigou and and Giannakodimos, Stylianos and Gatz, Stylianos and Pavlou, Evangelos and and Tzoufi, Meropi and Vergeer, A. M. H. and Dhooghe, Marc and Verhelst, and Helene and Roelens, Filip and Nassogne, Marie Cecile and Defresne, and Pierre and De Waele, Liesbeth and Leroy, Patricia and Demonceau, and Nathalie and Legros, Benjamin and Van Bogaert, Patrick and Ceulemans, and Berten and Dom, Lina and Castelnau, Pierre and Martin, Anne De St and and Riquet, Audrey and Milh, Mathieu and Cances, Claude and Pedespan, and Jean-Michel and Ville, Dorothee and Roubertie, Agathe and Auvin, and Stephane and Berquin, Patrick and Richelme, Christian and Allaire, and Catherine and Gueden, Sophie and Tich, Sylvie Nguyen The and Godet, and Bertrand and Rojas, Maria Luz Ruiz Falco and Planas, Jaume Campistol and and Bermejo, Antonio Martinez and Dura, Patricia Smeyers and Aparicio, and Susana Roldan and Gonzalez, Maria Jesus Martinez and Pison, Javier Lopez and and Barca, Manuel Oscar Blanco and Laso, Eduardo Lopez and Luengo, Olga and Alonso and Rodriguez, Francisco Javier Aguirre and Dieguez, Ignacio and Malaga and Salas, Ana Camacho and Carrera, Itxaso Marti and Salcedo, and Eduardo Martinez and Petri, Maria Eugenia Yoldi and Candela, Ramon and Cancho and Carrilho, Ines da Conceicao and Vieira, Jose Pedro and and Monteiro, Jose Paulo da Silva Oliveira and Leao, Miguel Jorge Santos de and Oliveira Ferreira and Luis, Catarina Sofia Marceano Ribeiro and and Mendonca, Carla Pires and Endziniene, Milda and Strautmanis, Jurgis and and Talvik, Inga and Canevini, Maria Paola and Gambardella, Antonio and and Pruna, Dario and Buono, Salvatore and Fontana, Elena and Dalla and Bernardina, Bernardo and Burloiu, Carmen and Cosma, Iuliu Stefan Bacos and and Vintan, Mihaela Adela and Popescu, Laura and Zitterbart, Karel and and Payerova, Jaroslava and Bratsky, Ladislav and Zilinska, Zuzana and and Gruber-Sedlmayr, Ursula and Baumann, Matthias and Haberland, Edda and and Rostasy, Kevin and Pataraia, Ekaterina and Elmslie, Frances and and Johnston, Clare Ann and Crawford, Pamela and Uldall, Peter and Uvebrant, and Paul and Rask, Olof and Bjoernvold, Marit and Brodtkorb, Eylert and and Sloerdahl, Andreas and Solhoff, Ragnar and Jaatun, Martine Sofie Gilje and and Mandera, Marek and Radzikowska, Elzbieta Janina and Wysocki, Mariusz and and Fischereder, Michael and Kurlemann, Gerhard and Wilken, Bernd and and Wiemer-Kruel, Adelheid and Budde, Klemens and Marquard, Klaus and Knuf, and Markus and Hahn, Andreas and Hartmann, Hans and Merkenschlager, Andreas and and Trollmann, Regina and TOSCA Consortium and TOSCA Investigators",
    journal = "Frontiers in Neurology",
    year = "2019",
    volume = "10",
    publisher = "Frontiers Media SA",
    doi = "10.3389/fneur.2019.00705",
    keywords = "mTOR; registry; SEGA; TOSCA; tuberous sclerosis complex",
    abstract = "Background: This study evaluated the characteristics of subependymal
giant cell astrocytoma (SEGA) in patients with tuberous sclerosis
complex (TSC) entered into the TuberOus SClerosis registry to increase
disease Awareness (TOSCA).
Methods: The study was conducted at 170 sites across 31 countries. Data
from patients of any age with a documented clinical visit for TSC in the
12 months preceding enrollment or those newly diagnosed with TSC were
entered.
Results: SEGA were reported in 554 of 2,216 patients (25%). Median age
at diagnosis of SEGA was 8 years (range, <1-51), with 18.1% diagnosed
after age 18 years. SEGA growth occurred in 22.7% of patients aged <=
18 years and in 11.6% of patients aged > 18 years. SEGA were
symptomatic in 42.1% of patients. Symptoms included increased seizure
frequency (15.8%), behavioural disturbance (11.9%), and
regression/loss of cognitive skills (9.9%), in addition to those
typically associated with increased intracranial pressure. SEGA were
significantly more frequent in patients with TSC2 compared to TSC1
variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities
included surgery (59.6%) and mammalian target of rapamycin (mTOR)
inhibitors (49%).
Conclusions: Although SEGA diagnosis and growth typically occurs during
childhood, SEGA can occur and grow in both infants and adults."
}