De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies by Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Palotie, Aarno, Pendziwiat, Manuela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Singh, Rani, Smith, Michael C., Sullivan, Joe, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Winawer, Melodie R., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Marson, Anthony G., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes by Ortega-Moreno, Laura, Giráldez, Beatriz G, Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M

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Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease by Burgos, Daniel F, Cussó, Lorena, Sánchez-Elexpuru, Gentzane, Calle, Daniel, Perpinyà, Max Bautista, Desco, Manuel, Serratosa, José M, Sánchez, Marina P

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Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole by García-Cabrero, Ana M, Sánchez-Elexpuru, Gentzane, Serratosa, José M, Sánchez, Marina P

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A PTG variant contributes to a milder phenotype in Lafora disease by Guerrero, Rosa, Vernia, Santiago, Sanz, Raúl, Abreu-Rodríguez, Irene, Almaraz, Carmen, García-Hoyos, María, Michelucci, Roberto, Tassinari, Carlo Alberto, Riguzzi, Patrizia, Nobile, Carlo, Sanz, Pascual, Serratosa, José M, Gómez-Garre, Pilar

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Lafora disease offers a unique window into neuronal glycogen metabolism by Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.

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An empirical pipeline for personalized diagnosis of Lafora disease mutations by Brewer, M. Kathryn, Machio-Castello, Maria, Viana, Rosa, Wayne, Jeremiah L., Kuchtová, Andrea, Simmons, Zoe R., Sternbach, Sarah, Li, Sheng, García-Gimeno, Maria Adelaida, Serratosa, Jose M., Sanz, Pascual, Vander Kooi, Craig W., Gentry, Matthew S.

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Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models by Sánchez, Marina P, García-Cabrero, Ana M, Sánchez-Elexpuru, Gentzane, Burgos, Daniel F, Serratosa, José M

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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies by Masnada, Silvia, Hedrich, Ulrike B S, Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W, Lanpher, Brendan C, Gavrilova, Ralitza H, Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen, King, Mary D, Allen, Nicholas M, Conroy, Judith, Ben Zeev, Bruria, Tzadok, Michal, Korff, Christian, Dubois, Fanny, Ramsey, Keri, Narayanan, Vinodh, Serratosa, Jose M, Giraldez, Beatriz G, Helbig, Ingo, Marsh, Eric, O'Brien, Margaret, Bergqvist, Christina A, Binelli, Adrian, Porter, Brenda, Zaeyen, Eduardo, Horovitz, Dafne D, Wolff, Markus, Marjanovic, Dragan, Caglayan, Hande S, Arslan, Mutluay, Pena, Sergio D J, Sisodiya, Sanjay M, Balestrini, Simona, Syrbe, Steffen, Veggiotti, Pierangelo, Lemke, Johannes R, Møller, Rikke S, Lerche, Holger, Rubboli, Guido

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Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities by Giraldez, Beatriz G., Serratosa, José M., Striano, Salvatore, Ikeda, Akio, Striano, Pasquale, Coppola, Antonietta

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Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities by Sanz, Pascual, Serratosa, José M.

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Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease by Berthier, Arnaud, Payá, Miguel, García-Cabrero, Ana M., Ballester, Maria Inmaculada, Heredia, Miguel, Serratosa, José M., Sánchez, Marina P., Sanz, Pascual

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Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice by Zafra-Puerta, Luis, Colpaert, Matthieu, Iglesias-Cabeza, Nerea, Burgos, Daniel F., Sánchez-Martín, Gema, Gentry, Matthew S., Sánchez, Marina P., Serratosa, Jose M.

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Efficacy and safety of adjunctive cenobamate: Post-hoc analysis of study C017 in patients grouped by mechanism of action of concomitant antiseizure medications by Brandt, Christian, Sánchez-Álvarez, Juan Carlos, Steinhoff, Bernhard J., Milanov, Ivan, Serratosa, Jose M.

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Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice by Burgos, Daniel F., Sciaccaluga, Miriam, Worby, Carolyn A., Zafra-Puerta, Luis, Iglesias-Cabeza, Nerea, Sánchez-Martín, Gema, Prontera, Paolo, Costa, Cinzia, Serratosa, José M., Sánchez, Marina P.

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Hyperexcitability and epileptic seizures in a model of frontotemporal dementia by García-Cabrero, Ana M, Guerrero-López, Rosa, Giráldez, Beatriz G, Llorens-Martín, María, Ávila, Jesús, Serratosa, José M, Sánchez, Marina P

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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study by May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger

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Nanostructured Hybrid Materials Formed by Sequestration of Pyridine Molecules in the Tunnels of Sepiolite by Kuang, Wenxing, Facey, Glenn A, Detellier, Christian, Casal, Blanca, Serratosa, José M, Ruiz-Hitzky, Eduardo

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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease by Knecht, Erwin, Criado-García, Olga, Aguado, Carmen, Gayarre, Javier, Duran-Trio, Lara, Garcia-Cabrero, Ana M., Vernia, Santiago, San Millán, Beatriz, Heredia, Miguel, Romá-Mateo, Carlos, Mouron, Silvana, Juana-López, Lucía, Domínguez, Mercedes, Navarro, Carmen, Serratosa, Jose M., Sanchez, Marina, Sanz, Pascual, Bovolenta, Paola, Rodríguez de Córdoba, Santiago

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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES) by Bonardi, Claudia M., Mignot, Cyril, Serratosa, Jose M., Giraldez, Beatriz G., Moretti, Raffaella, Rudolf, Gabrielle, Reale, Chiara, Gellert, Pia M., Johannesen, Katrine M., Lesca, Gaetan, Tassinari, Carlo A., Gardella, Elena, Møller, Rikke S., Rubboli, Guido

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