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.
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.
Boronat, Susana (FGS)
sboronat@santpau.cat
Artigas Baleri, Alicia IR
Diaz Gomez, Maria Asuncion FGS
Espriu Aguado, Gisela IR
Gutierrez Martin, Paula IR
Jorda Pallarola, Mireia IR
Ros Castello, Victoria FGS
Rubies Olives, Julia IR
Sierra Marcos, Alba FGS
Turon Viñas, Eulalia FGS
Turon Viñas, Marc FGS
(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.
(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.
-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 NR, 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. 2023; DOI:10.1111/epi.17850. PMID:38049202. IF:6,600 (Q1/1D). 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.
(JIF 2022)