Sant Pau - Institut de Recerca

El Grup de Recerca en Epilèpsia està conformat per investigadors amb una llarga trajectòria en recerca en malalties amb epilèpsia, tant infantil com de l’adult, amb un interés comú que és el d’aprofundir en les bases fisiopatològiques de l’epilèpsia, en especial la genètica, i en el maneig de les crisis i les comorbilitats associades. La coordinadora del grup és la dra. Susana Boronat, qui és també membre del Scientific Board de la Dravet Syndrome Foundation.

Principals línies de recerca

Estudi de malalties que cursen amb epilèpsia, tant en nens com en adults, en especial les de causa genètica.
Relació genotip-fenotip d’encefalopaties del neurodesenvolupament amb epilèpsia.
Estatus epilèptic i codi crisi: maneix urgent i repercussió neuropsicologica dels estatus.
Comorbiditats neuropsicològiques i psiquiàtriques de la epilèpsia.
Síndrome de Dravet: historia natural de la malaltia. Comorbiditats.

Assajos actualment en marxa

ETX-DS-001 (Encoded Therapeutics, Inc. Epilog): Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies (ENVISION).
NBI-921352-DEE2012 (Neurocrine Biosciences, Inc.): Study to Evaluate NBI-921352 as Adjunctive Therapy in Subjects With SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE).
AMZ002-002 (Amzell, B.V.): A Study to Evaluate Safety and Efficacy of AMZ002 Treatment, Compared With Vigabatrin in Participants With Infantile Spasms.
1042-TSC-3001 (Marinus Pharmaceuticals Inc.): Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy (TrustTSC) (TrustTSC).
40411813EPY2001 (Janssen Research & Development): A Study to Investigate JNJ-40411813 in Combination With Levetiracetam or Brivaracetam in Epilepsy.

Reptes

Relació genotip-fenotip d’encefalopaties del neurodesenvolupament amb epilèpsia.
Medicina de precisió: fàrmacs específics segons tipus d’epilèpsia.

Coordinació del grup

SIERRA MARCOS, ALBA FGS
asierram@santpau.cat

Membres

Diaz Gomez, Maria Asuncion FGS
Ros Castello, Victoria FGS
Turon Viñas, Eulalia FGS
Turon Viñas, Marc FGS

Publicacions 2024

(JIF 2024)

-Angeles D, Izura M, Barguilla A, Sierra A, Moran I. Lance-Adams Syndrome in the Intensive Care Unit: A Case Report. CUREUS JOURNAL OF MEDICAL SCIENCE. 2024; 16(4):e58241. DOI:10.7759/cureus.58241. PMID:38745818. IF:1,300 (Q2/5D). Document type: Article.

-Awamleh Z, Choufani S, Wu W, Rots D, Dingemans A, Khadri NN, Boronat S, Ibañez S, Herraiz LC, Ferrer I, Carrascal AM, Pérez LA, Lain GA, Ortigoza JD, de Vries B, Koolen DA, Weksberg R. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32(3). DOI:10.1038/s41431-024-01538-6. PMID:38282074. IF:4,600 (Q1/2D). Document type: Article.

-Boronat S, Turon E, Mac N, Diaz A, Vicente M, Ros V, Sierra A. Response to amoxicillin and perampanel in infantile Alexander disease. Epilepsia Open. 2024; 9(6). DOI:10.1002/epi4.13077. PMID:39503736. IF:2,900 (Q2/4D). Document type: Article.

-Cavestro C, Morra F, Legati A, D’Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra C, Rodríguez B, Turón E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di I. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology. 2024; 11(6). DOI:10.1002/acn3.52079. PMID:38750253. IF:3,900 (Q1/3D). Document type: Article.

-Codes H, Magallares B, Park HS, Mariscal A, Juárez C, Boronat S, Martínez L, Corominas H. Diagnostic accuracy of serum calprotectin measured by CLIA and EIA in juvenile idiopathic arthritis: a proof-of-concept study. Frontiers in Pediatrics. 2024; 12:1422916. DOI:10.3389/fped.2024.1422916. PMID:38962573. IF:2,000 (Q2/4D). Document type: Article.

-Esmel R, Miguel LDD, Artigas A, Turón E, Cuscó I, Díaz A, Panadés LPD, Rocamora R, Boronat S. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. European Journal of Medical Genetics. 2024; 71:104965. DOI:10.1016/j.ejmg.2024.104965. PMID:39094681. IF:1,700 (Q3/8D). Document type: Article.

-Giorgi S, Auvin S, Schoonjans AS, Turón E, Sánchez I, Gil A, Lagae L, Aibar JA. A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE). EPILEPSY & BEHAVIOR. 2024; 158:109958. DOI:10.1016/j.yebeh.2024.109958. PMID:39067307. IF:2,300 (Q2/4D). Document type: Article.

-Mansilla D, Tveit J, Aurlien H, Avigdor T, Ros V, Ho A, Abdallah C, Gotman J, Beniczky S, Frauscher B. Generalizability of electroencephalographic interpretation using artificial intelligence: An external validation study. EPILEPSIA. 2024; 65(10). DOI:10.1111/epi.18082. PMID:39141002. IF:6,600 (Q1/2D). Document type: Article.

-Moliner E, Rabella N, Turón E, Ginovart G, Figueras J. Relevance of enteroviruses in neonatal meningitis. Enfermedades Infecciosas Y Microbiologia Clinica (english Ed.). 2024; 42(1). DOI:10.1016/j.eimce.2022.12.012. PMID:36624031. IF:2,500 (Q2/5D). Document type: Article.

-Muiño E, Carcel J, Llucia L, Gallego C, Cullell N, Lledós M, Martin JM, Villatoro P, Sierra A, Ros V, Aguilera A, Marti J, Fernandez I. Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach. NEUROLOGY. 2024; 103(8):e209666. DOI:10.1212/WNL.0000000000209666. PMID:39298701. IF:8,500 (Q1/1D). Document type: Article.

-Perry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Brünger T, Wojnaroski M, Maru B, O’Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. Epilepsia. 2024; 65(2):322-337. DOI:10.1111/epi.17850. PMID:38049202. IF:6,600 (Q1/1D). Document type: Article.. DOI:45323. PMID:Article. IF:CLINICAL NEUROLOGYPerry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Brünger T, Wojnaroski M, Maru B, O’Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. Epilepsia. 2024; 65(2):322-337. DOI: 10.1111/epi.17850. PMID: 38049202. IF:6,600 (Q1/2D). Document type: Article.

-Schesquini KRP, Rodríguez GMF, Castellanos JCB, Martinez L, Guerrero SB, Rodrigo C, Badell I. Celiac disease diagnosis: transglutaminase, duodenal biopsy and genetic tests correlations. Frontiers in Pediatrics. 2024; 12:1330511. DOI:10.3389/fped.2024.1330511. PMID:39268360. IF:2,000 (Q2/4D). Document type: Article.

-Sierra A, Ribosa R, Vidal N, Aldecoa I, Turón E, Rodríguez B, Turón M, Boronat S, Molina L. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers. EPILEPSY RESEARCH. 2024; 199:107266. DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2,000 (Q3/7D). Document type: Article.

-Turón E, Boronat S, Gich I, Alvarez VG, García M, Carreras MC, Rodriguez A, Felipe A, Aznar G, Jiménez X, de la Ossa NP, Catalan Pediat Stroke Study GRP. Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE. STROKE. 2024; 55(9). DOI:10.1161/STROKEAHA.124.046846. PMID:39051112. IF:8,900 (Q1/1D). Document type: Article.

-Turón-Viñas E, López-Torija I, Coca-Fernández E, Badell I, Sierra-Marcos A, Turón M, Ribosa-Nogué R, Boronat S. Seizures in children undergoing stem cell transplantation. Pediatr Transplant. 2024; 28(1):e14619. DOI:10.1111/petr.14619. PMID:37803946. IF:1,400 (Q3/6D). Document type: Article.

-Villanueva V, Villar EG, Fernandez A, Zurita J, Lopez FJ, Rodríguez X, Parejo B, Estevez JC, Mercedes B, Ojeda J, Rubio M, Garcia A, Gómez A, Martinez J, Martinez P, Calle R, Sierra A, Gonzalez AM, Herrera JD, Rodriguez J, Cabezas B, Martinez E, Renau J, de Toledo M, Hampel KG, Alarcón C, Barceló MI, Monterde A, Lara LB, Sansa G, Serratosa JM. BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice. Epilepsia Open. 2024; 9(6). DOI:10.1002/epi4.13078. PMID:39470722. IF:2,900 (Q2/4D). Document type: Article.

Publicacions 2023

(JIF 2023)

-Esmel R, Valenzuela I, Riaza L, Rodríguez B, Rosés F, Boronat S, Sabaté A. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9):104823. DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1,600 (Q3/8D). Document type: Article.

-Iznardo H, Bernal S, Boronat S, Roé E. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature. PEDIATRIC NEUROLOGY. 2023; 148DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3,200 (Q1/2D). Document type: Article.

-Turón E, López I, Coca E, Badell I, Sierra A, Turón M, Ribosa R, Boronat S. Seizures in children undergoing stem cell transplantation. PEDIATRIC TRANSPLANTATION. 2023:e14619. DOI:10.1111/petr.14619. PMID:37803946. IF:1,200 (Q3/7D). Document type: Article.

Publicacions 2022

(JIF 2022)

Aledo A, Mingorance A, Villanueva V, Garcia JJ, Gil A, Boronat S, Aibar J, Camara S, Yaniz MJ, Aras LM, Blanco B, Sanchez R, Charlotte GRP. The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study. Frontiers in Neurology. 2022; 13:975034. DOI:10.3389/fneur.2022.975034. PMID:36119672. IF:3,4 (Q2/5D). Document type: Article.
Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Blasco L, Costa M, Leno J, Bernal S, Alias L, Codina M, Martinez D, Castiglioni C, Bertini E, Travaglini L, Millan JM, Aller E, Sotoca J, Juntas R, Hoei CE, Moreno A, Guillen E, Costa L, Munell F, Boronat S, Rojas R, Povedano M, Cusco I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, et al. [Díaz-Manera J, Rojas-García R, Bernal S, Boronat S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article
Moliner E, Rabella N, Turón E, Ginovart G, Figueras J. Relevancia de los enterovirus en la meningitis neonatal. ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA. 2022; DOI:10.1016/j.eimc.2022.07.010. IF:2,5 (Q4/8D). Document type: Article.
Turon-Viñas E, Boronat S, Trabazo M, Brio S, Coca E, Moron G, Badell I. Neurologic Complications in Pediatric Allogeneic Stem Cell Transplantation: Analysis of Risk Factors and Outcome. JOURNAL OF CHILD NEUROLOGY. 2022; 37(2). DOI:10.1177/08830738211067974. PMID:35001699. IF:1,9 (Q3/6D). Document type: Article.

Fonseca E, Sarria-Estrada S, Pareto D, Turon M, Quintana M, Santamarina E, Abraira L, Tortajada C, Rovira À, Toledo M. Relationship between visuoperceptual functions and parietal structural abnormalities in temporal lobe epilepsy. Brain Imaging Behav. 2022 Nov 10. doi: 10.1007/s11682-022-00738-2.
Turón-Viñas E, Boronat S, Trabazo M, Brio S, Coca E, Moron G ,Badell Neurological complications in pediatric stem cell transplantation: analysis of risk factors and outcome. J Child Neurol 2022; 37 (2): 141-150.
Turon M, Jiménez-Balado J, Abraira L, Fonseca E, Quintana M, Toledo M, Delgado P, Maisterra O, Salas-Puig X, Álvarez-Sabín J,Santamarina E. Effect of late-onset epilepsy on cognitive functioning in patients with small vessel disease. Epilepsy Behav 2021; 123:108238.
Turon M, Abraira L, Cazorla S, Fonseca E, Quintana M, Toledo M, Salas-Puig X, Santamarina E. Vascular risk factors as independent predictors of neurocognitive impairments in patients with late-onset epilepsy who have small-vessel disease. Epilepsy Behav 2020.
Turón-Viñas E , Díaz-Gómez A, Coca E, Dougherty L, Ruiz C, Boronat S. Long term efficacy of perampanel in a child with Dravet syndrome. Child Neurol Open 2021; 8:2329048X211050711.
Pascual-Goñi E, Josa M, Launes C, Querol L, Del Cuerpo M, Bosch MA, Jordan I, Turón-Viñas E. Excellent Response to Plasma Exchange in Three Patients With Enterovirus-71 Neurological Disease. Front Neurol. 2019 May 24;10:548.
Turon M, Fernández-Gonzalo S, de Haro C, Magrans R,López-Aguilar J, Blanch L . Mechanisms involved in brain dysfunction in mechanically ventilated critically ill patients: implications and therapeutics. Ann Transl Med. 2018;6(2):30.
Sierra-Marcos A, Fournier-Del Castillo MC, Álvarez-Linera J, Budke M, García Fernández M, Pérez-Jiménez MA. Functional surgery in pediatric drug-resistant posterior cortex epilepsy: Electro-clinical findings, cognitive and seizure outcome. Seizure. 2017:22;52:46-52.
Boronat S, Vicente M, Lainez E, Sánchez-Montañez A, Vázquez E, Mangado L, Martínez-Ribot L, Del Campo M. Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders. Eur J Med Genet. 2017. 60(1):72-78.
Turon M, Fernandez-Gonzalo S, Jodar M,Gomà G, Montanya J, Hernando D, Bailón R, de Haro C, Gomez-Simon V, Lopez-Aguila J, Magrans R, Martinez-Perez M, Oliva JC, Blanch L. Feasibility and safety of virtual-reality based early neurocognitive stimulation in critically ill patients. Ann Intensive Care 2017;70(1):81.
Arkilo D, Devinsky O, Mudigoudar B, Boronat S, Jennesson M, Sassower K, Vaou OE, Lerner JT, Jeste SS, Luchsinger K, Thibert R. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q). Epilepsy and behavior 2016; 57 (Pt. A): 133-136.
Sierra-Marcos A, Scheuer ML, Rossetti AO. Seizure detection with automated EEG analysis: A validation study focusing on periodic patterns. Clin Neurophysiol 2015;126:456- 62.
Armangué T, Moris G, Cantarin-Extremera V, Turon-Viñas E, Málaga I, Muñoz-Cabello B, Torres-Torres C, Llufriu S, González-Gutiérrez-Solana L, González G, Casado-Naranjo I, Rosenfeld M, Graus F, Dalmau J; Spanish Prospective Multicentric Study of Autoimmunity in Herpes Simplex Encephalitis. Autoimmune post-herpes simplex encephalitis of adults and teenagers. Neurology 2015; 85(20): 1736-43.
Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O’Callaghan M, Muchart J, Armstrong-Moron J. Vanishing white matter disease in a spanish population. J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68.
Boronat S, Newberry P, Mehan W, Thiele EA, Duhaime AC. Klüver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis. Childs Nerv Syst ChNS 2013;29(8):1391-4.
Boronat S, Van Eeghen AM, Shinnick JE, Newberry P, Thiele EA. Stressor-related disorders in tuberous sclerosis. Ann Clin Psychiatry 2013; 25(4):243-9.
Sierra-Marcos A, Maestro I, Falcón C, Donaire A, Carreño M, Aparicio J, Setoain J, Rumià J, Pintor L, Boget T, Bargalló N. EEG-fMRI in locating the epileptogenic area in patients with refractory focal neocortical epilepsy. Epilepsia 2013;54:1688-98.
Turón-Viñas E, López-Casas A, Palacio-Navarro A, Donaire A, García-Fructuoso G, Rumià J, Cusí-Sánchez V, Sanmartí FX. Five years’ experience in a paediatric epilepsy unit. Rev Neurol. 2010 Oct 16;51(8):451-60.
Laura Olivié L, Gonzalez.Giráldez B, Sierra-Marcos A, Díaz-Gómez E, Serratosa JM. External Trigeminal Nerve Stimulation: A long-term follow up study. Seizure 2019;69:218-220.
Sierra-Marcos A, Carreño M, Setoain X, López-Rueda A, Aparicio J, Donaire A, Bargalló N. Accuracy of arterial spin labeling magnetic resonance imaging (MRI) perfusion in detecting the epileptogenic zone in patients with drug-resistant neocortical epilepsy: comparison with electrophysiological data, structural MRI, SISCOM and FDG-PET. Eur J Neurol 2016;23:160-167.
Sierra-Marcos A, Alvarez V, Faouzi M, Burnand B, Rossetti AO. Statins are associated with decreased mortality risk after status epilepticus. Eur J Neurol 2015;22:402-5.
Alvarez V, Sierra-Marcos A, Oddo M, Rossetti AO. Yield of intermittent versus continuous EEG in comatose survivors of cardiac arrest treated with hypothermia. Crit Care 2013;17:R190.
Sierra-Marcos A, Rossetti A. Antiepileptic medication in the ICU: Which compounds do we need? Epileptologie 2012; 29:194-200.
Falip M, Carreño M, Miró J, Saiz A, Villanueva V, Quílez A, Molins A, Barceló I, Sierra-Marcos A, Graus F. Prevalence and immunological spectrum of temporal lobe epilepsy with glutamic acid decarboxylase antibodies. Eur J Neurol 2012;19:827-833.
Carreño M, Aparicio J, Sierra-Marcos A, Aceituno A, Pintor L, Bargalló N, Setoain J, Rumià J, Boget T, Donaire A, Bailles E, Fernández S. Are patients referred for presurgical evaluation drug resistant according to the new consensus definition? A study in a tertiary center. Epilepsy Res 2012; 98:277-80.
Sierra-Marcos A, Bermejo PE, Calderón RM, Gutiérrez-Álvarez AM, Corral CJ, Mur DS. Lacosamide for epileptic seizures in patients with comorbidities and unusual presentations of epilepsy. CNS Drugs. 2011;25 Suppl 1:17-26.
Sierra-Marcos A, Toledo M, Quintana M, Edo MC, Centeno M, Santamarina E, Salas-Puig, Sueiras M, Rovira R, Alvarez-Sabin J. Diagnosis of epileptic syndrome after a new onset seizure and its correlation at long-term follow-up: Longitudinal study of 131 patients from the Emergency Room. Epilepsy Res 2011;97:30-36.

presentació

Principals línies de recerca

Estudi de malalties que cursen amb epilèpsia, tant en nens com en adults, en especial les de causa genètica.
Relació genotip-fenotip d’encefalopaties del neurodesenvolupament amb epilèpsia.
Estatus epilèptic i codi crisi: maneix urgent i repercussió neuropsicologica dels estatus.
Comorbiditats neuropsicològiques i psiquiàtriques de la epilèpsia.
Síndrome de Dravet: historia natural de la malaltia. Comorbiditats.

Assajos actualment en marxa

ETX-DS-001 (Encoded Therapeutics, Inc. Epilog): Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies (ENVISION).
NBI-921352-DEE2012 (Neurocrine Biosciences, Inc.): Study to Evaluate NBI-921352 as Adjunctive Therapy in Subjects With SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE).
AMZ002-002 (Amzell, B.V.): A Study to Evaluate Safety and Efficacy of AMZ002 Treatment, Compared With Vigabatrin in Participants With Infantile Spasms.
1042-TSC-3001 (Marinus Pharmaceuticals Inc.): Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy (TrustTSC) (TrustTSC).
40411813EPY2001 (Janssen Research & Development): A Study to Investigate JNJ-40411813 in Combination With Levetiracetam or Brivaracetam in Epilepsy.

Reptes

Relació genotip-fenotip d’encefalopaties del neurodesenvolupament amb epilèpsia.
Medicina de precisió: fàrmacs específics segons tipus d’epilèpsia.

equip

Coordinació del grup

SIERRA MARCOS, ALBA FGS
asierram@santpau.cat

Membres

Diaz Gomez, Maria Asuncion FGS
Ros Castello, Victoria FGS
Turon Viñas, Eulalia FGS
Turon Viñas, Marc FGS

producció científica

Aledo A, Mingorance A, Villanueva V, Garcia JJ, Gil A, Boronat S, Aibar J, Camara S, Yaniz MJ, Aras LM, Blanco B, Sanchez R, Charlotte GRP. The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study. Frontiers in Neurology. 2022; 13:975034. DOI:10.3389/fneur.2022.975034. PMID:36119672. IF:3,4 (Q2/5D). Document type: Article.
Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Blasco L, Costa M, Leno J, Bernal S, Alias L, Codina M, Martinez D, Castiglioni C, Bertini E, Travaglini L, Millan JM, Aller E, Sotoca J, Juntas R, Hoei CE, Moreno A, Guillen E, Costa L, Munell F, Boronat S, Rojas R, Povedano M, Cusco I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15):8289. DOI:10.3390/ijms23158289. PMID:35955418. IF:5,6 (Q1/3D). Document type: Article.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez LA, Beltran S, Schlüter A, Rodriguez A, Cáceres A, Nascimento A, García À, Cueto A, Marcé A, NELLOAR, et al. [Díaz-Manera J, Rojas-García R, Bernal S, Boronat S]. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5). DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4,1 (Q2/3D). Document type: Article
Moliner E, Rabella N, Turón E, Ginovart G, Figueras J. Relevancia de los enterovirus en la meningitis neonatal. ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA. 2022; DOI:10.1016/j.eimc.2022.07.010. IF:2,5 (Q4/8D). Document type: Article.
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