J. Serratosa

发表

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

M. T. Medina, J. Mani, G. Fong, 1998, American journal of human genetics.

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Laforin and Malin Deletions in Mice Produce Similar Neurologic Impairments

J. Serratosa, R. Guerrero, Marina P Sánchez, 2012, Journal of neuropathology and experimental neurology.

Efficacy and safety of adjunctive cenobamate: Post-hoc analysis of study C017 in patients grouped by mechanism of action of concomitant antiseizure medications

B. Steinhoff, J. Serratosa, C. Brandt, 2022, Seizure.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Variant Intestinal‐Cell Kinase in Juvenile Myoclonic Epilepsy

M. T. Medina, Viet-Huong V. Nguyen, K. Yamakawa, 2018, The New England journal of medicine.

Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

I. Scheffer, Í. Lopes-Cendes, H. Lerche, 2010, Epilepsia.

Syddansk Universitet Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada,

Vinodh, J. Conroy, S. Sisodiya, 2017 .

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

Temporal lobe epilepsy: clinical semiology and age at onset.

J. Serratosa, V. Villanueva, 2005, Epileptic disorders : international epilepsy journal with videotape.

Silicon-29 and aluminum-27 NMR study of zeolite formation from alkali-leached kaolinites: influence of thermal preactivation

J. Serratosa, J. Sanz, A. Madani, 1990 .

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Carlo Nobile, R. Michelucci, J. Serratosa, 2011, PloS one.

Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

R. Michelucci, F. Villani, J. Serratosa, 2014, Epilepsia.

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

J. Serratosa, P. Gómez-Garre, S. R. Córdoba, 2000, European Journal of Human Genetics.

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

S. Berkovic, D. Lev, J. Serratosa, 2007, Epilepsia.

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora

J. Serratosa, S. Rodríguez de Córdoba, P. Gómez-Garre, 2007, Neurology.

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.

J. Serratosa, S. Rodríguez de Córdoba, J. Guinovart, 2008, Human molecular genetics.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Antiepileptic Drug Interactions

J. Serratosa, Jeronimo Sancho, R. S. Díaz, 2008, The neurologist.

Determination of the Orientation of OH Bond Axes in Layer Silicates by Infrared Absorption

J. Serratosa, W. Bradley, 1958 .

Folding in Sepiolite Crystals

J. L. Ahlrichs, J. Serratosa, C. Serna, 1975 .

Structural Hydroxyls in Sepiolites

J. L. Ahlrichs, J. Serratosa, C. Serna, 1975 .

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Michael R. Johnson, A. Uitterlinden, P. May, 2018, The Lancet Neurology.

Pitfalls in genetic testing: the story of missed SCN1A mutations

G. Carvill, I. Scheffer, H. Mefford, 2016, Molecular genetics & genomic medicine.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Genetic heterogeneity in infantile spasms

H. Mefford, P. Striano, J. Serratosa, 2019, Epilepsy Research.

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

R. Brugada, J. Serratosa, E. Lara-Pezzi, 2017, Journal of the American College of Cardiology.

Other Progressive Myoclonic Epilepsies

J. Serratosa, B. G. Giráldez, B. G. Giraldez, 2010 .

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene

J. Serratosa, C. Martínez-Parra, P. Gómez-Garre, 2008, Epilepsia.

Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities

J. Serratosa, P. Sanz, 2020, Expert Reviews in Molecular Medicine.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

J. Serratosa, S. Mas, J. Ramírez-Moreno, 2012, Movement disorders : official journal of the Movement Disorder Society.

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

J. Serratosa, J. García-Peñas, P. Gómez-Garre, 2014, Epilepsy Research.

Lafora disease offers a unique window into neuronal glycogen metabolism

J. Serratosa, Matthew S. Gentry, P. Roach, 2018, The Journal of Biological Chemistry.

Safety and tolerability of perampanel: a review of clinical trial data

J. Serratosa, F. Kerling, V. Villanueva, 2013, Acta neurologica Scandinavica. Supplementum.

Adjunctive perampanel for refractory partial-onset seizures

G. Krauss, J. Serratosa, M. Endzinienė, 2012 .

Strategies for studying the epilepsy genome

J. Serratosa, G. Rouleau, D. Pal, 2010 .

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy

J. Serratosa, B. Peral, P. Gómez-Garre, 2003, Epilepsy Research.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

P. Striano, H. Lerche, J. Serratosa, 2012, Neurology.

Safety, efficacy and outcome-related factors of perampanel over 12 months in a real-world setting: The FYDATA study

J. Serratosa, J. Ojeda, J. López-Trigo, 2016, Epilepsy Research.

Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features

J. Serratosa, B. G. Giráldez, V. Soto-Insuga, 2019, Epilepsy Research.

Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease

M. Desco, J. Serratosa, D. Burgos, 2020, International journal of molecular sciences.

Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease

J. Serratosa, Marina P Sánchez, J. González-Fernández, 2022, Neurotherapeutics.

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

C. Worby, R. Michelucci, J. Serratosa, 2020, Epilepsy & Behavior.

29Si and 27Al NMR Study of Zeolite Formation from Alkali-Leached Kaolinites. Influence of Thermal Preactivation.

J. Serratosa, J. Sanz, A. Madani, 1990 .

Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.

J. Serratosa, B. G. Giráldez, R. Guerrero‐López, 2016, Neurologia.

Silicon-29 and aluminum-27 high-resolution MAS-NMR spectra of phyllosilicates

J. Serratosa, J. Sanz, 1984 .

Distinction of tetrahedrally and octahedrally coordinated Al in phyllosilicates by NMR spectroscopy

J. Serratosa, J. Sanz, 1984, Clay Minerals.

Efficacy and safety of eslicarbazepine-acetate in elderly patients with focal epilepsy: Case series

J. Serratosa, A. Molins, J. Salas-Puig, 2017, Seizure.

The electrostatic energy of micas as a function of Si, Al tetrahedral ordering

J. Serratosa, C. Herrero, J. Sanz, 1986 .

The molecular genetic bases of the progressive myoclonus epilepsies.

R. Myers, L. Pennacchio, J. Serratosa, 1999, Advances in neurology.

Cortical myoclonus in angelman syndrome

Renzo Guerrini, Paolo Bonanni, Pierre Thomas, 1996, Annals of neurology.

Distribution of Octahedral Ions in Phlogopites and Biotites

J. Serratosa, J. Sanz, M. Fernández, 1979 .

Progress in Mapping Human Epilepsy Genes

M. T. Medina, M. Gee, J. Serratosa, 1994, Epilepsia.

Infrared Analysis of the Orientation of Pyridine Molecules in Clay Complexes

J. Serratosa, 1966 .

Dispersion of charge deficits in a tetrahedral sheet of phyllosilicates: analysis from silicon-29 NMR spectra

J. Serratosa, C. Herrero, J. Sanz, 1989 .

Adsorption of Monovalent Organic Cations on Sepiolite: Experimental Results and Model Calculations

J. Serratosa, E. Ruiz-Hitzky, S. Nir, 1998 .

29Si MAS‐N.M.R. spectra of lamellar silicic acid H‐magadiite and its trimethylsilyl derivative

J. Serratosa, E. Ruiz-Hitzky, J. Sanz, 1986 .

Arrangement and mobility of water in vermiculite hydrates followed by 1H NMR spectroscopy.

J. Serratosa, C. Herrero, J. Sanz, 2006, The journal of physical chemistry. B.

29Si MAS-NMR spectroscopy of mica-type silicates: Observed and predicted distribution of tetrahedral Al-Si

J. Serratosa, C. Herrero, J. Sanz, 1987 .

Si, Al distribution in micas; analysis by high-resolution 29 Si NMR spectroscopy

J. Serratosa, C. Herrero, J. Sanz, 1985 .

Infra-red Investigation of the OH Bonds in Chlorites

J. Serratosa, J. Viñas, 1964, Nature.

Aluminum‐27 and Silicon‐29 Magic‐Angle Spinning Nuclear Magnetic Resonance Study of the Kaolinite‐Mullite Transformation

J. Serratosa, J. Sanz, J. Moya, 1988 .

DEHYDRATION AND REHYDRATION STUDIES OF CLAY MINERALS BY INFRARED ABSORPTION SPECTRA

J. Serratosa, 1960 .

A DISCUSSION OF THE WATER CONTENT OF VERMICULITE

J. Serratosa, W. Bradley, 1958 .

Infra-Red Absorption of OH Bonds in Micas

J. Serratosa, W. Bradley, 1958, Nature.

Orientation of OH Bonds in Kaolinite

J. Serratosa, J. Viñas, A. Hidalgo, 1962, Nature.

ADSORPTION OF M O N O V A L E N T ORGANIC CATIONS ON SEPIOLITE: EXPERIMENTAL RESULTS AND MODEL CALCULATIONS

J. Serratosa, E. Ruiz-Hitzky, S. Nir, 2006 .

Sepiolite-based materials for the photo- and thermal-stabilization of pesticides

J. Serratosa, E. Ruiz-Hitzky, B. Casal, 2001 .

Surface Properties of Fibrous Clay Minerals (Palygorskite and Sepiolite)

J. Serratosa, 1979 .

I.R. Study of Alkyl-Ammonium Vermiculite Complexes

J. Serratosa, W. D. Johns, A. Shimoyama, 1970 .

Infrared Absorption and X-Ray Diffraction Study of Butylammonium Complexes of Phyllosilicates

J. Serratosa, J. A. Martín-Rubí, J. A. Rausell-Colom, 1974 .

Tetrahedral cation ordering in layer silicates by 29Si NMR spectroscopy

J. Serratosa, C. Herrero, J. Sanz, 1985 .

Infrared study of benzonitrile (C6H5-CN)-MONT-The Morillonite complexes

J. Serratosa, 1968 .

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

M. T. Medina, J. Sainz, P. Shah, 1999, Advances in neurology.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

Clinical spectrum and genotype‐phenotype associations of KCNA2‐related encephalopathies

J. Conroy, S. Sisodiya, H. Lerche, 2017, Brain : a journal of neurology.

Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy.

J. Serratosa, A. Molins, J. Salas-Puig, 2009, Epileptic disorders : international epilepsy journal with videotape.

Effect of lamotrigine on sexual function in patients with epilepsy

F. López-Muñoz, C. Álamo, J. Serratosa, 2006, Seizure.

4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease

J. Serratosa, P. Sanz, Marina P Sánchez, 2017, Neuroreport.

Sodium selenate treatment improves symptoms and seizure susceptibility in a malin‐deficient mouse model of Lafora disease

J. Serratosa, Marina P Sánchez, Gentzane Sanchez-Elexpuru, 2017, Epilepsia.

Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease

J. Serratosa, A. Berthier, M. Payá, 2016, Molecular Neurobiology.

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

P. Bovolenta, J. Serratosa, S. Rodríguez de Córdoba, 2012, Autophagy.

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

P. Bovolenta, J. Serratosa, S. Rodríguez de Córdoba, 2012, Human molecular genetics.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

François Dubeau, Frederick Andermann, Samuel F. Berkovic, 2013, Nature Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole

J. Serratosa, Marina P Sánchez, Ana M. García-Cabrero, 2014, Front. Neurosci..

Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease

J. Serratosa, P. Sanz, Marina P Sánchez, 2021, International journal of molecular sciences.

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

J. Serratosa, S. Rodríguez de Córdoba, P. Gómez-Garre, 2003, Human molecular genetics.

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

S. Scherer, J. Sainz, M. Gee, 1999, Annals of neurology.

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

R. Michelucci, S. Berkovic, J. Serratosa, 1999, Human molecular genetics.

Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.

J. Sainz, M. Gee, J. Serratosa, 1997, American journal of human genetics.

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

I. Drury, J. Serratosa, A. Delgado-Escueta, 1995, Human molecular genetics.

An empirical pipeline for personalized diagnosis of Lafora disease mutations

J. Serratosa, C. V. Vander Kooi, Matthew S. Gentry, 2021, bioRxiv.

MRI Volumetry and Proton MR Spectroscopy of the Brain in Lafora Disease

J. Serratosa, P. Gómez-Garre, J. Alvarez-Linera, 2006, Epilepsia.

Lafora disease due to EPM2B mutations

R. Michelucci, J. Serratosa, C. Tassinari, 2005, Neurology.

Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy

M. T. Medina, J. Serratosa, A. Delgado-Escueta, 1996, Annals of neurology.

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

J. Serratosa, B. G. Giráldez, V. Soto-Insuga, 2017, PloS one.

Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12

J. Serratosa, P. Gómez-Garre, F. Díaz-Otero, 2010, Epilepsia.

Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study

Anne, Ruppert, Michael R. Johnson, 2018 .

Fever, genes, and epilepsy

M. Baulac, G. Huberfeld, J. Serratosa, 2004, The Lancet Neurology.

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

S. Berkovic, J. Serratosa, R. Ottman, 2002 .

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

K. Lindblad-Toh, M. Leppert, J. Ott, 2002, Epilepsia.

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

I. Scheffer, Í. Lopes-Cendes, F. Dubeau, 2004, Epilepsia.

Nanostructured Hybrid Materials Formed by Sequestration of Pyridine Molecules in the Tunnels of Sepiolite

J. Serratosa, C. Detellier, E. Ruiz-Hitzky, 2003 .

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

J. Serratosa, P. Gómez-Garre, C. de la Torre, 2005, Journal of Medical Genetics.

Strategies to detect adverse effects of antiepileptic drugs in clinical practice

J. Serratosa, E. Elices, A. Gil-Nagel, 2008, Epilepsy & Behavior.

Is Refractory Epilepsy Preventable?

G. Avanzini, M. Brodie, C. Baumgartner, 2002, Epilepsia.

Initial monotherapy with eslicarbazepine acetate for the management of adult patients with focal epilepsy in clinical practice: a meta-analysis of observational studies

J. Serratosa, R. Rojo, S. Fernández-Anaya, 2021, The International journal of neuroscience.

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

I. Scheffer, C. Elger, R. Kaneva, 2012, Epilepsia.

Brief Communication ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies ILAE Genetics Commission

K. Lindblad-Toh, M. Leppert, J. Ott, 2002 .

Determination of the economically justifiable price of cenobamate in the treatment of focal-onset seizures in adult patients with drug-resistant epilepsy in Spain

J. Serratosa, V. Villanueva, M. Toledo, 2022, Expert review of pharmacoeconomics & outcomes research.

Emergency implementation of telemedicine for epilepsy in Spain: Results of a survey during SARS-CoV-2 pandemic

J. Serratosa, J. García-Peñas, A. Donaire, 2020, Epilepsy & Behavior.

Socio-occupational and employment profile of patients with epilepsy

J. Serratosa, E. Elices, A. Gil-Nagel, 2011, Epilepsy & Behavior.

Reactions of clays with organic substances.

J. Serratosa, J. A. Rausell-Colom, 1987 .

Characterization of surface Si-OH groups in layer silicic acids by IR and NMR spectroscopies

J. Serratosa, E. Ruiz-Hitzky, J. Sanz, 1983 .

Vibrational spectra of ammonium ions in crown-ether–NH+4-montmorillonite complexes

J. Serratosa, E. Ruiz-Hitzky, B. Casal, 1984 .

Interlayer water in vermiculite: thermodynamic properties, packing density, nuclear pulse resonance, and infra-red absorption

J. Serratosa, H. Olphen, W. Stone, 1970 .

Use of Infra-red Spectroscopy to determine the Orientation of Pyridine sorbed on Montmorillonite

J. Serratosa, 1965, Nature.

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy

S. Sisodiya, H. Lerche, J. Serratosa, 2021, Science Translational Medicine.

Clinical outcomes of eslicarbazepine acetate monotherapy for focal‐onset seizures: A multicenter audit

J. Serratosa, A. Molins, F. López-González, 2019, Acta neurologica Scandinavica.

Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models

J. Serratosa, Marina P Sánchez, Ana M. García-Cabrero, 2018, International journal of molecular sciences.

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)

J. Serratosa, A. Gil-Nagel, V. Villanueva, 2021, Epilepsy & Behavior.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Sepiolite Anhydride and Crystal Folding

J. L. Ahlrichs, J. Serratosa, C. Serna, 1975 .

Validation of the Spanish version of the Side Effect and Life Satisfaction Inventory in patients with epilepsy

J. Serratosa, E. Elices, A. Gil-Nagel, 2009, Epilepsy & Behavior.

Jeavons syndrome as an occipital cortex initiated generalized epilepsy: Further evidence from a patient with a photic-induced occipital seizure

J. Serratosa, B. G. Giraldez, 2015, Seizure.

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

J. Serratosa, R. Guerrero‐López, J. Pardal-Fernández, 2015, Neuromuscular Disorders.

Lacosamide monotherapy in clinical practice: A retrospective chart review

M. De Backer, J. Serratosa, A. Gambardella, 2018, Acta neurologica Scandinavica.

Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait.

M. T. Medina, M. Gee, J. Serratosa, 1995, American journal of human genetics.

Early Add-on Lacosamide in a Real-Life Setting: Results of the REALLY Study

J. Serratosa, Jaime Parra, A. Molins, 2015, Clinical Drug Investigation.

Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations.

M. T. Medina, M. Gee, J. Serratosa, 1996, American journal of medical genetics.

Control of seizures in different stages of partial epilepsy: LACO-EXP, a Spanish retrospective study of lacosamide

J. Serratosa, A. Molins, J. Salas-Puig, 2013, Epilepsy & Behavior.

Long-term efficacy and safety of lacosamide monotherapy in the treatment of partial-onset seizures: A multicenter evaluation

R. Toledano, J. Serratosa, A. Gil-Nagel, 2015, Seizure.

Bonding-state characterization of constituent elements in phyllosilicate minerals by XPS and NMR

J. Serratosa, J. Sanz, A. Gonzalez-Elipe, 1988 .

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Hyperexcitability and epileptic seizures in a model of frontotemporal dementia

J. Serratosa, J. Ávila, M. Llorens-Martín, 2013, Neurobiology of Disease.

Eslicarbazepine acetate as monotherapy in clinical practice: Outcomes from Euro‐Esli

J. Serratosa, N. Delanty, M. Holtkamp, 2018, Acta neurologica Scandinavica.

Long-term safety and efficacy of eslicarbazepine acetate in patients with focal seizures: Results of the 1-year ESLIBASE retrospective study

J. Serratosa, A. Molins, J. Salas-Puig, 2014, Epilepsy Research.

Epm2a R240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a −/− mice

C. Worby, J. Serratosa, M. Sciaccaluga, 2023, Neurobiology of Disease.

Genetics of the epilepsies

J. Serratosa, Eva Gutierrez-Delicado, José M Serratosa, 2004, Current opinion in neurology.

Familial Adult Myoclonus Epilepsy: clinical findings, disease course and comorbidities.

P. Striano, A. Coppola, J. Serratosa, 2023, Epilepsia.

Validation of the Spanish version of the Liverpool Adverse Events Profile in patients with epilepsy

J. Serratosa, C. Viteri, M. Falip, 2009, Epilepsy & Behavior.

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

J. Serratosa, C. Tassinari, G. Rubboli, 2020, Clinical Neurophysiology.

Charge density and its distribution in phyllosilicates: effect on the arrangement and reactivity of adsorbed species

J. Serratosa, J. Sanz, J. A. Rausell-Colom, 1984 .

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Antiepileptogenesis after stroke—trials and tribulations: Methodological challenges and recruitment results of a Phase II study with eslicarbazepine acetate

G. Gigli, M. Koepp, J. Serratosa, 2023, Epilepsia open.

Distribution of Isomorphous Substitutions in Silicates By Nmr-spectroscopy

J. Serratosa, J. Sanz, W. Stone, 1986 .

[Analysis of cost minimization of monotherapy antiepileptic treatment in patients with recent diagnosed epilepsy : the situation in Spain].

Josemir W Sander, S. Shorvon, J. Serratosa, 2000, Revista de neurologia.

Self-reported memory problems in everyday activities in patients with epilepsy treated with antiepileptic drugs

J. Serratosa, E. Elices, A. Gil-Nagel, 2009, Epilepsy & Behavior.

Practical guidance for the management of adults receiving adjunctive cenobamate for the treatment of focal epilepsy—expert opinion

B. Steinhoff, G. Krauss, J. Serratosa, 2021, Epilepsy & Behavior.

Onset of efficacy and adverse events during Cenobamate titration period

E. Ben-Menachem, B. Steinhoff, J. Serratosa, 2022, Acta neurologica Scandinavica.

Gene defects in progressive myoclonus epilepsy

J. Serratosa, S. Ganesh, B. Minassian, 2010 .

Idiopathic Epilepsies with a Complex Mode of Inheritance

J. Serratosa, 1999, Epilepsia.

Tailored resections in occipital lobe epilepsy surgery guided by monitoring with subdural electrodes: Characteristics and outcome

J. Albísua, J. Serratosa, A. Caicoya, 2007, Epilepsy Research.

Progressive Myoclonic Epilepsies: Overview

J. Serratosa, 2010 .

Mapping Human Epilepsy Genes

J. Serratosa, A. Delgado-Escueta, 1996 .

Infrared Study of the Orientation of Chlorobenzene Sorbed on Pyridinium-Montmorillonite

J. Serratosa, 1968 .

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

J. Serratosa, M. Calleja, V. Villanueva, 2023, Epilepsy & Behavior.

External trigeminal nerve stimulation: A long term follow up study

J. Serratosa, A. Sierra-Marcos, Laura Olivié, 2019, Seizure.

Subthalamic lesion and paroxysmal tonic spasms

J. Serratosa, V. Villanueva, A. Pérez-Higueras, 2003, Movement disorders : official journal of the Movement Disorder Society.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

I. Scheffer, J. Gécz, F. Dubeau, 2013, Nature Genetics.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Progressive myoclonus epilepsy of Lafora

J. Serratosa, S. Ganesh, B. Minassian, 2012 .

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Effect of Polarization in the Distribution of Energy Diffracted by Gratings

J. Serratosa, A. Hidalgo, J. Pastor, 1962 .

Postictal behaviour in temporal lobe epilepsy.

J. Serratosa, A. Caicoya, 2006, Epileptic disorders : international epilepsy journal with videotape.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, P. Stankiewicz, L. Lagae, 2019, Epilepsia.

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

J. Serratosa, J. García-Peñas, P. Gómez-Garre, 2014, Epilepsy Research.

De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).

J. Serratosa, R. Guerrero‐López, B. González-Giráldez, 2020, Epileptic disorders : international epilepsy journal with videotape.

Lafora disease offers a unique window into neuronal glycogen metabolism

J. Serratosa, Matthew S. Gentry, P. Roach, 2018, The Journal of Biological Chemistry.

Adjunctive perampanel for refractory partial-onset seizures

J. Serratosa, M. Endzinienė, Z. Hong, 2012 .