Works matching DE "FOCAL cortical dysplasia"

Results: 245
    1

    mTORopathies in Epilepsy and Neurodevelopmental Disorders: The Future of Therapeutics and the Role of Gene Editing.

    Published in:
    Cells (2073-4409), 2025, v. 14, n. 9, p. 662, doi. 10.3390/cells14090662
    By:
    • Boff, Marina Ottmann;
    • Xavier, Fernando Antônio Costa;
    • Diz, Fernando Mendonça;
    • Gonçalves, Júlia Budelon;
    • Ferreira, Laura Meireles;
    • Zambeli, Jean;
    • Pazzin, Douglas Bottega;
    • Previato, Thales Thor Ramos;
    • Erwig, Helena Scartassini;
    • Gonçalves, João Ismael Budelon;
    • Bruzzo, Fernanda Thays Konat;
    • Marinowic, Daniel;
    • da Costa, Jaderson Costa;
    • Zanirati, Gabriele
    Publication type:
    Article
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    The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

    Published in:
    Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf034
    By:
    • Coleman, Matthew;
    • Wang, Min;
    • Snell, Penny;
    • Lee, Wei Shern;
    • D'Arcy, Colleen;
    • Mignone, Cristina;
    • Pope, Kate;
    • Gillies, Greta;
    • Maixner, Wirginia;
    • Wray, Alison;
    • Harvey, A Simon;
    • Simons, Cas;
    • Leventer, Richard J;
    • Stephenson, Sarah E M;
    • Lockhart, Paul J;
    • Howell, Katherine B
    Publication type:
    Article
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    Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40240-3
    By:
    • Galvão, Isabella C.;
    • Kandratavicius, Ludmyla;
    • Messias, Lauana A.;
    • Athié, Maria C. P.;
    • Assis-Mendonça, Guilherme R.;
    • Alvim, Marina K. M.;
    • Ghizoni, Enrico;
    • Tedeschi, Helder;
    • Yasuda, Clarissa L.;
    • Cendes, Fernando;
    • Vieira, André S.;
    • Rogerio, Fabio;
    • Lopes-Cendes, Iscia;
    • Veiga, Diogo F. T.
    Publication type:
    Article
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    Focal cortical dysplasia type 1.

    Published in:
    Brain Pathology, 2021, v. 31, n. 4, p. 1, doi. 10.1111/bpa.12964
    By:
    • Coras, Roland;
    • Holthausen, Hans;
    • Sarnat, Harvey B.
    Publication type:
    Article
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    Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with <sup>18</sup>F‐FDG PET‐CT values.

    Published in:
    Brain Pathology, 2021, v. 31, n. 2, p. 346, doi. 10.1111/bpa.12925
    By:
    • Wang, Zhongke;
    • Huang, Kaixuan;
    • Yang, Xiaolin;
    • Shen, Kaifeng;
    • Yang, Ling;
    • Ruan, Ruotong;
    • Shi, Xianjun;
    • Wang, Miao;
    • Zhu, Gang;
    • Yang, Meihua;
    • Zhang, Chunqing;
    • Lv, Shengqing;
    • Yang, Hui;
    • Fan, Xiaotang;
    • Liu, Shiyong
    Publication type:
    Article
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    Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.

    Published in:
    2018
    By:
    • Avansini, Simoni H.;
    • Torres, Fábio R.;
    • Vieira, André S.;
    • Dogini, Danyella B.;
    • Rogerio, Fabio;
    • Coan, Ana C.;
    • Morita, Marcia E.;
    • Guerreiro, Marilisa M.;
    • Yasuda, Clarissa L.;
    • Secolin, Rodrigo;
    • Carvalho, Benilton S.;
    • Borges, Murilo G.;
    • Almeida, Vanessa S.;
    • Araújo, Patrícia A. O. R.;
    • Queiroz, Luciano;
    • Cendes, Fernando;
    • Lopes‐Cendes, Iscia;
    • Lopes-Cendes, Iscia
    Publication type:
    journal article
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    WNT pathway in focal cortical dysplasia compared to perilesional nonlesional tissue in refractory epilepsies.

    Published in:
    BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03394-1
    By:
    • Marinowic, Daniel R.;
    • Zanirati, Gabriele G.;
    • Xavier, Fernando A. C.;
    • Varella, Fábio Jean;
    • Azevedo, Sofia Prates da Cunha;
    • Ghilardi, Isadora Machado;
    • Pereira-Neto, Normando G.;
    • Koff, Marco Antônio Eduardo;
    • Paglioli, Eliseu;
    • Palmini, André;
    • Abreu, José Garcia;
    • Machado, Denise C.;
    • da Costa, Jaderson C.
    Publication type:
    Article
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    A new perspective on drug‐resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 3, p. 632, doi. 10.1111/epi.18237
    By:
    • Splitkova, Barbora;
    • Mackova, Katerina;
    • Koblizek, Miroslav;
    • Holubova, Zuzana;
    • Kyncl, Martin;
    • Bukacova, Katerina;
    • Maulisova, Alice;
    • Straka, Barbora;
    • Kudr, Martin;
    • Ebel, Matyas;
    • Jahodova, Alena;
    • Belohlavkova, Anezka;
    • Rivera, Gonzalo Alonso Ramos;
    • Hermanovsky, Martin;
    • Liby, Petr;
    • Tichy, Michal;
    • Zamecnik, Josef;
    • Janca, Radek;
    • Krsek, Pavel
    Publication type:
    Article
    40

    Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 3, p. 914, doi. 10.1111/epi.18234
    By:
    • Clatot, Jérôme;
    • Thompson, Christopher H.;
    • Sotardi, Susan;
    • Jiang, Jinan;
    • Trivisano, Marina;
    • Balestrini, Simona;
    • Ward, D. Isum;
    • Ginn, Natalie;
    • Guaragni, Brunetta;
    • Malerba, Laura;
    • Vakrinou, Angeliki;
    • Sherer, Mia;
    • Helbig, Ingo;
    • Somarowthu, Ala;
    • Sisodiya, Sanjay M.;
    • Ben‐Shalom, Roy;
    • Guerrini, Renzo;
    • Specchio, Nicola;
    • George, Alfred L.;
    • Goldberg, Ethan M.
    Publication type:
    Article
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    Focal negative motor seizures: Multimodal evaluation.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 1, p. e14, doi. 10.1111/epi.18191
    By:
    • Di Giacomo, Roberta;
    • Colombo, Rachele;
    • Canafoglia, Laura;
    • Duran, Dunja;
    • Pastori, Chiara;
    • Stabile, Andrea;
    • Battaglia, Giulia;
    • Didato, Giuseppe;
    • Cuccarini, Valeria;
    • Deleo, Francesco;
    • Dominese, Ambra;
    • de Curtis, Marco;
    • Rossi Sebastiano, Davide
    Publication type:
    Article
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    Proof of concept: Portable ultra‐low‐field magnetic resonance imaging for the diagnosis of epileptogenic brain pathologies.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 12, p. 3607, doi. 10.1111/epi.18171
    By:
    • Bauer, Tobias;
    • Olbrich, Simon;
    • Groteklaes, Anne;
    • Lehnen, Nils Christian;
    • Zidan, Mousa;
    • Lange, Annalena;
    • Bisten, Justus;
    • Walger, Lennart;
    • Faber, Jennifer;
    • Bruchhausen, Walter;
    • Vollmuth, Philipp;
    • Herrlinger, Ulrich;
    • Radbruch, Alexander;
    • Surges, Rainer;
    • Sabir, Hemmen;
    • Rüber, Theodor
    Publication type:
    Article
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    Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 12, p. e209, doi. 10.1111/epi.18148
    By:
    • Sanders, Maurits W. C. B.;
    • Koeleman, Bobby P. C.;
    • Brilstra, Eva H.;
    • Jansen, Floor E.;
    • Baldassari, Sara;
    • Chipaux, Mathilde;
    • Sim, Nam Suk;
    • Ko, Ara;
    • Kang, Hoon‐Chul;
    • Blümcke, Ingmar;
    • Lal, Dennis;
    • Baulac, Stéphanie;
    • Lee, Jeong Ho;
    • Aronica, Eleonora;
    • Braun, Kees P. J.
    Publication type:
    Article
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    Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1768, doi. 10.1111/epi.17980
    By:
    • Klein, Karl Martin;
    • Mascarenhas, Rumika;
    • Merrikh, Daria;
    • Khanbabaei, Maryam;
    • Maroilley, Tatiana;
    • Kaur, Navprabhjot;
    • Liu, Yiping;
    • Soule, Tyler;
    • Manalo, Minette;
    • Tamura, Goichiro;
    • Jacobs, Julia;
    • Hader, Walter;
    • Pfeffer, Gerald;
    • Tarailo‐Graovac, Maja
    Publication type:
    Article