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J. Serratosa · SciRah

Researcher profile · Semantic Scholar

J. Serratosa

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J. Serratosa — researcher profile on SciRah

h-index: 55
Works: 233
Citations: 9,889

Most-cited papers

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
J. Lemke, Dennis Lal, E. Reinthaler, Isabelle Steiner +67 more
2013Nature Genetics433 citations
Semantic Scholar
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
L. Dibbens, B. de Vries, Simona Donatello, S. Heron +31 more
2013Nature Genetics357 citations Open access
Semantic Scholar
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
S. Appenzeller, R. Balling, N. Barišić, S. Baulac +117 more
2017American Journal of Human Genetics326 citations Open access
Semantic Scholar
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S. Syrbe, U. Hedrich, E. Riesch, T. Djémié +45 more
2015Nature Genetics268 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders with epilepsy
H. Heyne, T. Singh, H. Stamberger, R. Jamra +48 more
2018Nature Genetics265 citations Open access
Semantic Scholar
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
A. Suls, J. Jaehn, A. Kecskés, Y. Weber +63 more
2013American Journal of Human Genetics223 citations Open access
Semantic Scholar
Clinical spectrum and genotype‐phenotype associations of KCNA2‐related encephalopathies
S. Masnada, U. Hedrich, E. Gardella, Julian Schubert +39 more
2017Brain : a journal of neurology143 citations Open access
Semantic Scholar
Safety, efficacy and outcome-related factors of perampanel over 12 months in a real-world setting: The FYDATA study.
V. Villanueva, M. Garcés, F. López-González, X. Rodríguez-Osorio +25 more
2016Epilepsy Research123 citations
Semantic Scholar
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
I. Helbig, T. López-Hernández, O. Shor, P. Galer +75 more
2019American Journal of Human Genetics112 citations Open access
Semantic Scholar
Hyperexcitability and epileptic seizures in a model of frontotemporal dementia.
Ana M. García-Cabrero, R. Guerrero-López, B. G. Giraldez, M. Llorens-Martín +3 more
2013Neurobiology of Disease98 citations Open access
Semantic Scholar
Phenotypic spectrum of GABRA1
K. Johannesen, C. Marini, Siona Pfeffer, R. Møller +42 more
2016Neurology93 citations Open access
Semantic Scholar
Diagnostic implications of genetic copy number variation in epilepsy plus
A. Coppola, E. Cellini, H. Stamberger, E. Saarentaus +72 more
2019Epilepsia89 citations Open access
Semantic Scholar
Pitfalls in genetic testing: the story of missed SCN1A mutations
T. Djémié, S. Weckhuysen, S. von Spiczak, G. Carvill +42 more
2016Molecular Genetics & Genomic Medicine82 citations Open access
Semantic Scholar
Lafora disease offers a unique window into neuronal glycogen metabolism
Matthew S. Gentry, J. Guinovart, B. Minassian, P. Roach +1 more
2018Journal of Biological Chemistry77 citations Open access
Semantic Scholar
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy
U. Hedrich, Stephan Lauxmann, M. Wolff, M. Synofzik +21 more
2021Science Translational Medicine73 citations
Semantic Scholar
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
P. May, S. Girard, Merle Harrer, D. Bobbili +121 more
2018Lancet Neurology72 citations Open access
Semantic Scholar
Long-term safety and efficacy of eslicarbazepine acetate in patients with focal seizures: results of the 1-year ESLIBASE retrospective study.
V. Villanueva, J. Serratosa, E. Guillamón, M. Garcés +14 more
2014Epilepsy Research71 citations
Semantic Scholar
Pharmacological interventions to ameliorate neuropathological symptoms in a mouse model of Lafora disease
Arnaud Berthier, M. Payá, Ana M. García-Cabrero, Maria Ballester +4 more
2015Molecular Neurobiology66 citations Open access
Semantic Scholar
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
L. Ortega-Moreno, B. G. Giraldez, V. Soto-Insuga, R. Losada-Del Pozo +6 more
2017PLoS ONE63 citations Open access
Semantic Scholar
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Teresa Santiago-Sim, Lindsay C. Burrage, F. Ebstein, M. Tokita +63 more
2017American Journal of Human Genetics62 citations Open access
Semantic Scholar
Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models
M. Sánchez, Ana M. García-Cabrero, G. Sanchez-Elexpuru, Daniel F Burgos +1 more
2018International Journal of Molecular Sciences61 citations Open access
Semantic Scholar
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
K. Hardies, P. May, T. Djémié, O. Tarta-Arsene +37 more
2015Human Molecular Genetics56 citations Open access
Semantic Scholar
Genetic heterogeneity in infantile spasms
Alison M. Muir, Candace T. Myers, N. T. Nguyen, Julia Saykally +14 more
2019Epilepsy Research51 citations Open access
Semantic Scholar
Variant Intestinal‐Cell Kinase in Juvenile Myoclonic Epilepsy
J. Bailey, L. de Nijs, D. Bai, Toshimitsu Suzuki +28 more
2018New England Journal of Medicine43 citations Open access
Semantic Scholar
Emergency implementation of telemedicine for epilepsy in Spain: Results of a survey during SARS-CoV-2 pandemic
E. Conde-Blanco, M. Centeno, Ester Tio, D. Muriana +10 more
2020Epilepsy & Behavior40 citations Open access
Semantic Scholar
Control of seizures in different stages of partial epilepsy: LACO-EXP, a Spanish retrospective study of lacosamide.
V. Villanueva, F. J. López, J. Serratosa, B. González-Giráldez +13 more
2013Epilepsy & Behavior39 citations
Semantic Scholar
Early Add-on Lacosamide in a Real-Life Setting: Results of the REALLY Study
V. Villanueva, M. Garcés, E. López-Gomáriz, J. Serratosa +16 more
2015Clinical drug investigation36 citations Open access
Semantic Scholar
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
E. Ferlazzo, L. Canafoglia, R. Michelucci, A. Gambardella +17 more
2014Epilepsia36 citations Open access
Semantic Scholar
Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease
P. Sanz, J. Serratosa, M. Sánchez
2021International Journal of Molecular Sciences35 citations Open access
Semantic Scholar
4-PBA and metformin decrease sensitivity to PTZ-induced seizures in a malin knockout model of Lafora disease
G. Sanchez-Elexpuru, J. Serratosa, P. Sanz, M. Sánchez
2017NeuroReport35 citations Open access
Semantic Scholar
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease
G. Sanchez-Elexpuru, J. Serratosa, M. Sánchez
2017Epilepsia33 citations Open access
Semantic Scholar
Lacosamide monotherapy in clinical practice: A retrospective chart review
V. Villanueva, B. G. Giraldez, M. Toledo, G. D. de Haan +7 more
2018Acta Neurologica Scandinavica31 citations Open access
Semantic Scholar
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
N. Chatron, F. Becker, H. Morsy, M. Schmidts +41 more
2020Brain : a journal of neurology29 citations Open access
Semantic Scholar
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Ana M. García-Cabrero, G. Sanchez-Elexpuru, J. Serratosa, M. Sánchez
2014Frontiers in Neuroscience29 citations Open access
Semantic Scholar
Efficacy and safety of adjunctive cenobamate: Post-hoc analysis of study C017 in patients grouped by mechanism of action of concomitant antiseizure medications.
C. Brandt, J. Sánchez-Álvarez, B. Steinhoff, I. Milanov +1 more
2022Seizure28 citations Open access
Semantic Scholar
Spanish consensus on the management of concomitant antiseizure medications when using cenobamate in adults with drug‐resistant focal seizures
Mar Carreño, A. Gil-Nagel, J. Serratosa, M. Toledo +2 more
2024Epilepsia Open27 citations Open access
Semantic Scholar
Identifying key unmet needs and value drivers in the treatment of focal-onset seizures (FOS) in patients with drug-resistant epilepsy (DRE) in Spain through Multi-Criteria Decision Analysis (MCDA).
V. Villanueva, M. Carreño, A. Gil-Nagel, Pedro Serrano Castro +5 more
2021Epilepsy & Behavior27 citations Open access
Semantic Scholar
Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
Daniel F Burgos, María Machío-Castello, N. Iglesias-Cabeza, B. G. Giraldez +4 more
2022Neurotherapeutics26 citations Open access
Semantic Scholar
Antiepileptogenesis after stroke—trials and tribulations: Methodological challenges and recruitment results of a Phase II study with eslicarbazepine acetate
M. Koepp, E. Trinka, Y. Mah, C. Bentes +8 more
2023Epilepsia Open25 citations Open access
Semantic Scholar
Safety and tolerability of perampanel: a review of clinical trial data
J. Serratosa, V. Villanueva, F. Kerling, B. Kasper
2013Acta Neurologica Scandinavica, Supplementum25 citations Open access
Semantic Scholar
Onset of efficacy and adverse events during Cenobamate titration period
B. Steinhoff, E. Ben-Menachem, C. Brandt, I. García Morales +3 more
2022Acta Neurologica Scandinavica24 citations Open access
Semantic Scholar
Practical guidance for the management of adults receiving adjunctive cenobamate for the treatment of focal epilepsy-expert opinion.
B. Steinhoff, W. Rosenfeld, J. Serratosa, C. Brandt +3 more
2021Epilepsy & Behavior24 citations Open access
Semantic Scholar
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities
P. Sanz, J. Serratosa
2020Expert Reviews in Molecular Medicine24 citations Open access
Semantic Scholar
Number needed to treat and associated cost analysis of cenobamate versus third-generation anti-seizure medications for the treatment of focal-onset seizures in patients with drug-resistant epilepsy in Spain.
V. Villanueva, J. Serratosa, M. Toledo, Miguel Ángel Calleja +6 more
2023Epilepsy & Behavior22 citations Open access
Semantic Scholar
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
C. Bonardi, C. Mignot, J. Serratosa, B. G. Giraldez +10 more
2020Clinical Neurophysiology22 citations Open access
Semantic Scholar
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
Matthew S. Gentry, Z. Afawi, D. Armstrong, A. Delgado-Escueta +10 more
2020Epilepsy & Behavior21 citations Open access
Semantic Scholar
Long-term efficacy and safety of lacosamide monotherapy in the treatment of partial-onset seizures: A multicenter evaluation.
B. G. Giraldez, R. Toledano, I. García-Morales, A. Gil-Nagel +4 more
2015Seizure20 citations Open access
Semantic Scholar
Gene therapy for Lafora disease in the Epm2a-/- mouse model.
Luis Zafra-Puerta, N. Iglesias-Cabeza, Daniel F Burgos, Miriam Sciaccaluga +7 more
2024Molecular Therapy16 citations Open access
Semantic Scholar
Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.
R. Guerrero-López, L. Ortega-Moreno, B. G. Giraldez, C. Alarcón-Morcillo +7 more
2014Epilepsy Research16 citations
Semantic Scholar
External trigeminal nerve stimulation: A long term follow up study.
Laura Olivié, B. G. Giraldez, A. Sierra-Marcos, E. Díaz-Gómez +1 more
2019Seizure15 citations Open access
Semantic Scholar

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