Perampanel as precision therapy in rare genetic epilepsies
Nissenkorn, Andreea, Kluger, Gerhard, Schubert‐Bast, Susanne, Bayat, Allan, Bobylova, Marya, Bonanni, Paolo, Ceulemans, Berten, Coppola, Antonietta, Di Bonaventura, Carlo, Feucht, Martha, Fuchs, Anne, Gröppel, Gudrun, Heimer, Gali, Herdt, Brigitte, Kulikova, Sviatlana, Mukhin, Konstantin, Nicassio, Stefania, Orsini, Alessandro, Panagiotou, Maria, Pringsheim, Milka, Puest, Burkhard, Pylaeva, Olga, Ramantani, Georgia, Tsekoura, Maria, Ricciardelli, Paolo, Lerman Sagie, Tally, Stark, Brigit, Striano, Pasquale, Baalen, Andreas, De Wachter, Matthias, Cerulli Irelli, Emanuele, Cuccurullo, Claudia, Stülpnagel, Celina, Russo, Angelo
Published in Epilepsia (Copenhagen) (01.04.2023)
Published in Epilepsia (Copenhagen) (01.04.2023)
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Developmental epileptic encephalopathy in DLG4‐related synaptopathy
Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah‐Politi, Anya, Rheims, Sylvain, Rodríguez‐Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido
Published in Epilepsia (Copenhagen) (01.04.2024)
Published in Epilepsia (Copenhagen) (01.04.2024)
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Journal Article
ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis
Ehlers, Lisa, Bucciol, Giorgia, Beysen, Diane, Meyts, Isabelle
Published in Journal of clinical immunology (01.04.2023)
Published in Journal of clinical immunology (01.04.2023)
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Journal Article
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
De Wachter, Matthias, Schoonjans, An-Sofie, Weckhuysen, Sarah, Van Schil, Kristof, Löfgren, Ann, Meuwissen, Marije, Jansen, Anna, Ceulemans, Berten
Published in European journal of paediatric neurology (01.01.2024)
Published in European journal of paediatric neurology (01.01.2024)
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Journal Article
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij
Published in Brain (London, England : 1878) (01.08.2024)
Published in Brain (London, England : 1878) (01.08.2024)
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Journal Article
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep
Published in Clinical genetics (01.08.2022)
Published in Clinical genetics (01.08.2022)
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Journal Article
Infliximab for Paradoxical Reactions in Pediatric Central Nervous System Tuberculosis
Abo, Yara-Natalie, Curtis, Nigel, Osowicki, Joshua, Haeusler, Gabrielle, Purcell, Rachael, Kadambari, Seilesh, De Wachter, Matthias, Vanden Driessche, Koen, Dekeyzer, Sven, Coleman, Lee, Crawford, Nigel, Graham, Steve, Marais, Ben, Gwee, Amanda
Published in Journal of the Pediatric Infectious Diseases Society (31.12.2021)
Published in Journal of the Pediatric Infectious Diseases Society (31.12.2021)
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