Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
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
Published in Brain (London, England : 1878) (01.09.2017)
Published in Brain (London, England : 1878) (01.09.2017)
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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
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
Published in PloS one (30.11.2017)
Published in PloS one (30.11.2017)
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Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
Burgos, Daniel F., Machío-Castello, María, Iglesias-Cabeza, Nerea, Giráldez, Beatriz G., González-Fernández, Juan, Sánchez-Martín, Gema, Sánchez, Marina P., Serratosa, José M.
Published in Neurotherapeutics (01.01.2023)
Published in Neurotherapeutics (01.01.2023)
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Perampanel as adjuvant treatment in epileptic encephalopathies: A multicenter study in routine clinical practice
Alonso-Singer, Pablo, Aguilar-Amat Prior, María J., Oliva-Navarro, Javier, Massot-Tarrús, Andreu, Giráldez, Beatriz G., Bermejo, Pedro, DeToledo-Heras, María, Aledo-Serrano, Ángel, Martínez-Cayuelas, Elena, Tirado-Requero, Pilar, Velázquez-Fragua, Ramón, López-Sobrino, Gloria, Ojeda, Joaquín
Published in Epilepsy & behavior (01.09.2022)
Published in Epilepsy & behavior (01.09.2022)
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
Soto-Insuga, Víctor, López, Rosa Guerrero, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Cayuelas, Elena Martínez, Giráldez, Beatriz G., Díaz-Gómez, Ester, Sánchez-Martín, Gema, García, Laura Olivié, Serratosa, José M.
Published in Epilepsy research (01.08.2019)
Published in Epilepsy research (01.08.2019)
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Clinical outcomes of eslicarbazepine acetate monotherapy for focal‐onset seizures: A multicenter audit
Giráldez, Beatriz G., Garamendi‐Ruiz, Iñigo, Zurita, Jorge, García, Alberto, Querol, Rosa, Campos, Dulce, Cabeza‐Alvarez, Clara, Serrano, Pedro, López‐González, Francisco Javier, Molins, Albert, Serratosa, José M.
Published in Acta neurologica Scandinavica (01.12.2019)
Published in Acta neurologica Scandinavica (01.12.2019)
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Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene
Guerrero-López, Rosa, Ortega-Moreno, Laura, Giráldez, Beatriz G, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Nieto-Barrera, Manuel, Gutiérrez-Delicado, Eva, Gómez-Garre, Pilar, Martínez-Bermejo, Antonio, García-Peñas, Juan J, Serratosa, José M
Published in Epilepsy research (01.10.2014)
Published in Epilepsy research (01.10.2014)
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Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus
Villanueva, Vicente, Artal, Jesús, Cabeza-Alvarez, Clara-Isabel, Campos, Dulce, Castillo, Ascensión, Flórez, Gerardo, Franco-Martin, Manuel, García-Portilla, María Paz, Giráldez, Beatriz G., Gotor, Francisco, Gutiérrez-Rojas, Luis, Albanell, Albert Molins, Paniagua, Gonzalo, Pintor, Luis, Poza, Juan José, Rubio-Granero, Teresa, Toledo, Manuel, Tortosa-Conesa, Diego, Rodríguez-Uranga, Juan, Bobes, Julio
Published in Neurology and therapy (01.04.2023)
Published in Neurology and therapy (01.04.2023)
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Long-term efficacy and safety of lacosamide monotherapy in the treatment of partial-onset seizures: A multicenter evaluation
Giráldez, Beatriz G, Toledano, Rafael, García-Morales, Irene, Gil-Nagel, Antonio, López-González, Francisco Javier, Tortosa, Diego, Ojeda, Joaquín, Serratosa, José M
Published in Seizure (London, England) (01.07.2015)
Published in Seizure (London, England) (01.07.2015)
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Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1
Giráldez, Beatriz G, Guerrero-López, Rosa, Ortega-Moreno, Laura, Verdú, Alfonso, Carrascosa-Romero, M. Carmen, García-Campos, Óscar, García-Muñozguren, Susana, Pardal-Fernández, José Manuel, Serratosa, José M
Published in Neuromuscular disorders : NMD (01.03.2015)
Published in Neuromuscular disorders : NMD (01.03.2015)
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A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure
Guerrero-López, Rosa, García-Ruiz, Pedro J., Giráldez, Beatriz G., Durán-Herrera, Carmen, Querol-Pascual, Maria Rosa, Ramírez-Moreno, José María, Más, Sebastián, Serratosa, José M.
Published in Movement disorders (01.12.2012)
Published in Movement disorders (01.12.2012)
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Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy
Marinas, Ainhoa, Villanueva, Vicente, Giráldez, Beatriz G, Molins, Albert, Salas-Puig, Javier, Serratosa, Jose M
Published in Epileptic disorders (01.03.2009)
Published in Epileptic disorders (01.03.2009)
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External trigeminal nerve stimulation: A long term follow up study
Olivié, Laura, Giraldez, Beatriz G., Sierra-Marcos, Alba, Díaz-Gómez, Esther, Serratosa, Jose M.
Published in Seizure (London, England) (01.07.2019)
Published in Seizure (London, England) (01.07.2019)
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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
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
Published in Clinical neurophysiology (01.05.2020)
Published in Clinical neurophysiology (01.05.2020)
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