Zobrazeno 1 - 10
of 121
pro vyhledávání: '"José M Serratosa"'
Autor:
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa, Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188978 (2017)
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generatio
Externí odkaz:
https://doaj.org/article/b84d39a5a3a147318bfb64d9bc4a2963
Autor:
Mar Carreño, Antonio Gil‐Nagel, José M. Serratosa, Manuel Toledo, Juan Jesus Rodriguez‐Uranga, Vicente Villanueva
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 1051-1058 (2024)
Abstract Objective Cenobamate is an antiseizure medication (ASM) associated with high rates of seizure freedom and acceptable tolerability in patients with focal seizures. To achieve the optimal cenobamate dose for maximal potential effectiveness whi
Externí odkaz:
https://doaj.org/article/a918501ee9b846fbb730989b8c291bc6
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Publikováno v:
Frontiers in Neuroscience, Vol 8 (2014)
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin. It is characterized by the presence of polyglucosan inclusion bodies (Lafora
Externí odkaz:
https://doaj.org/article/f4d2373a53964868b7f1a28591bfa320
Autor:
Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21294 (2011)
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that
Externí odkaz:
https://doaj.org/article/decbd37294894b3a9ad223c460a37b7c
Autor:
Matthias J. Koepp, Eugen Trinka, Yee‐Haur Mah, Carla Bentes, Susanne Knake, Gian Luigi Gigli, José M. Serratosa, Johan Zelano, Luís M. Magalhães, Ana Pereira, Joana Moreira, Patrício Soares‐da‐Silva
Publikováno v:
Epilepsia Open, Vol 8, Iss 3, Pp 1190-1201 (2023)
Abstract There is currently no evidence to support the use of antiseizure medications to prevent unprovoked seizures following stroke. Experimental animal models suggested a potential antiepileptogenic effect for eslicarbazepine acetate (ESL), and a
Externí odkaz:
https://doaj.org/article/1816a04c78354f59ba86372099a6f80a
Autor:
Daniel F. Burgos, Miriam Sciaccaluga, Carolyn A. Worby, Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Gema Sánchez-Martín, Paolo Prontera, Cinzia Costa, José M. Serratosa, Marina P. Sánchez
Publikováno v:
Neurobiology of Disease, Vol 181, Iss , Pp 106119- (2023)
Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually diagnosed during adolescence. Patients present with myoclonus, neurological deterioration, and generalized tonic-clonic, myoclonic, or absence seizures. Symptoms worse
Externí odkaz:
https://doaj.org/article/1ed534af11534c5980ce7b80c1642e34
Autor:
Beatriz G. Giraldez, José M. Serratosa, Salvatore Striano, Akio Ikeda, Pasquale Striano, Antonietta Coppola
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9ede74904d8538d04f2bba28266f465
https://doi.org/10.1111/epi.17595
https://doi.org/10.1111/epi.17595
Autor:
Matthias J. Koepp, Eugen Trinka, Yee‐Haur Mah, Carla Bentes, Susanne Knake, Gian Luigi Gigli, José M. Serratosa, Johan Zelano, Luís M. Magalhães, Ana Pereira, Joana Moreira, Patrício Soares‐da‐Silva
Publikováno v:
Epilepsia Open.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfa170a58ce53b4743570e87dfe48b39
https://doi.org/10.1002/epi4.12735
https://doi.org/10.1002/epi4.12735
Autor:
Vicente Villanueva, José M. Serratosa, Manuel Toledo, Miguel Ángel Calleja, Andrés Navarro, Joel Sabaniego, Paloma Pérez-Domper, Elena Álvarez-Barón, Silvia Subías, Alicia Gil
Publikováno v:
Scientia
Medicamentos anticonvulsivos; Cenobamato; Eficiencia Medicaments anticonvulsius; Cenobamat; Eficiència Anti-seizure medications; Cenobamate; Efficiency Introduction Epilepsy is a serious neurological disease, ranking high in the top causes of disabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d0a76f3f36280879d4df7c28bddc2b
https://pubmed.ncbi.nlm.nih.gov/36603345
https://pubmed.ncbi.nlm.nih.gov/36603345
Autor:
Bernhard J. Steinhoff, Elinor Ben‐Menachem, Christian Brandt, Irene García Morales, William E. Rosenfeld, Estevo Santamarina, José M. Serratosa
Publikováno v:
Scientia
Cenobamate; Drug-resistant epilepsy; Seizures Cenobamato; Epilepsia resistente a los medicamentos; Convulsiones Cenobamat; Epilèpsia resistent a medicaments; Convulsions Objectives Cenobamate is an antiseizure medication (ASM) approved in Europe as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b5ce9778ed19d59302309a47e50948
https://hdl.handle.net/11351/8121
https://hdl.handle.net/11351/8121
