Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Autor: Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R

Publikováno v: Epilepsia Open

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 Retrosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0230368dd4d2223442bb9ce86b019b2f
http://hdl.handle.net/2108/212732

Evolution of Serum Lipids and Lipoprotein (a) Levels in Epileptic Children Treated With Carbamazepine, Valproic Acid, and Phenobarbital

Autor: Javier Rodríguez-García, Manuel Castro-Gago, Santiago Rodríguez-Segade, Jesús Eirís-Puñal, Blanco-Barca Mo, Adela Urisarri-Ruiz de Cortázar, M I Novo-Rodríguez

Publikováno v: Journal of Child Neurology. 21:48-53

The concentration levels of serum lipids and lipoprotein (a) were measured in 20 children receiving carbamazepine, 25 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment while

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a93ffadbe1d4585a4d5b0986548be06
https://doi.org/10.1177/08830738060210011601

Respiratory chain complex I deficiency in an infant with Ohtahara syndrome

Autor: Blanco-Barca Mo, Joaquín Arenas-Barbero, Jesús Eirís-Puñal, Carmen Gómez-Lado, Manuel Castro-Gago, Yolanda Campos-González

Publikováno v: Braindevelopment. 31(4)

We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5bd83799e1b7baa6044c6002886e9b2
https://pubmed.ncbi.nlm.nih.gov/18617342

Chromosomopathy Manifesting as Mitochondrial Disease

Autor: Blanco-Barca Mo, Jesús Eirís-Puñal, Laura Pérez-Gay, Manuel Castro-Gago

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b81cb8c3f1616bab508d901331093a04
https://doi.org/10.1177/0883073811404068

Variabilidad fenotípica de la deleción 22q11.2. Análisis de 16 observaciones con referencia especial a las manifestaciones neurológicas

Autor: M. Fuster-Siebert, Jesús Eirís-Puñal, J.M. Iglesias-Meleiro, Blanco-Barca Mo, A. Ansede, Francisco Barros-Angueira, Manuel Castro-Gago

Publikováno v: Revista de Neurología. 37:601

Introduction. The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions. Aims. To determine the most import

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cb3a8186849306c7164447a77d66b13
https://doi.org/10.33588/rn.3707.2003254