Torthaí cuardaigh - Weckhuysen, Sarah

Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency de réir Weckhuysen, Sarah, Tajsharghi, Homa

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The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding de réir Dirkx, Nina, Miceli, Francesco, Taglialatela, Maurizio, Weckhuysen, Sarah

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Lessons learned from gene identification studies in Mendelian epilepsy disorders de réir Hardies, Katia, Weckhuysen, Sarah, De Jonghe, Peter, Suls, Arvid

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Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update de réir Boon, Paul, Ferrao Santos, Susana, Jansen, Anna C., Lagae, Lieven, Legros, Benjamin, Weckhuysen, Sarah

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Impact of COVID-19 on the lives and psychosocial well-being of persons with epilepsy during the third trimester of the pandemic: Results from an international, online survey de réir Millevert, Charissa, Van Hees, Stijn, Siewe Fodjo, Joseph Nelson, Wijtvliet, Veerle, Faria de Moura Villela, Edlaine, Rosso, Barbara, Gil-Nagel, Antonio, Weckhuysen, Sarah, Colebunders, Robert

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Access to healthcare and prevalence of anxiety and depression in persons with epilepsy during the COVID-19 pandemic: A multicountry online survey()() de réir Van Hees, Stijn, Siewe Fodjo, Joseph Nelson, Wijtvliet, Veerle, Van den Bergh, Rafael, Faria de Moura Villela, Edlaine, da Silva, Carolina Ferreira, Weckhuysen, Sarah, Colebunders, Robert

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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study de réir Baldassari, Sara, Ribierre, Théo, Marsan, Elise, Adle-Biassette, Homa, Ferrand-Sorbets, Sarah, Bulteau, Christine, Dorison, Nathalie, Fohlen, Martine, Polivka, Marc, Weckhuysen, Sarah, Dorfmüller, Georg, Chipaux, Mathilde, Baulac, Stéphanie

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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis de réir Hartmann, Corinna, von Spiczak, Sarah, Suls, Arvid, Weckhuysen, Sarah, Buyse, Gunnar, Vilain, Catheline, Van Bogaert, Patrick, De Jonghe, Peter, Cook, Joseph, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Mefford, Heather C.

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Novel GABRG2 mutations cause familial febrile seizures de réir Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie

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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy de réir Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter

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Genetic heterogeneity in infantile spasms de réir Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies de réir Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

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GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy de réir Lemke, Johannes R, Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J, James, Victoria M, Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah

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Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy de réir Hitomi, Yuki, Heinzen, Erin L., Donatello, Simona, Dahl, Hans-Henrik, Damiano, John A., McMahon, Jacinta M., Berkovic, Samuel F., Scheffer, Ingrid E., Legros, Benjamin, Rai, Myriam, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Pandolfo, Massimo, Goldstein, David B., Van Bogaert, Patrick, Depondt, Chantal

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Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline de réir Hardies, Katia, Cai, Yiying, Jardel, Claude, Jansen, Anna C., Cao, Mian, May, Patrick, Djémié, Tania, Hachon Le Camus, Caroline, Keymolen, Kathelijn, Deconinck, Tine, Bhambhani, Vikas, Long, Catherine, Sajan, Samin A., Helbig, Katherine L., Suls, Arvid, Balling, Rudi, Helbig, Ingo, De Jonghe, Peter, Depienne, Christel, De Camilli, Pietro, Weckhuysen, Sarah

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Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H de réir Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy de réir Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies de réir Brunklaus, Andreas, Pérez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Kattan, Michael W., Zuberi, Sameer M., Lal, Dennis

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Treatment Responsiveness in KCNT1-Related Epilepsy de réir Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An-Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., Bearden, David

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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures de réir Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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