Pasquale Striano, MD, PhD

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Zara FedericoInstitute G. Gaslini, University of GenoaVerified email at gaslini.org
Carlo MinettiUniversity of Genova and G.Gaslini Institute, GenovaVerified email at unige.it
roberto micheluccidirettore neurologia irccs istituto delle scienze neurologiche di bolognaVerified email at ausl.bo.it
Alessandro OrsiniSezione Neurologia Pediatrica, U.O Pediatria, Azienda Ospedaliera Universitaria PisanaVerified email at uslnordovest.toscana.it
Edoardo FerlazzoRicercatore in Neurologia, Università di Catanzaro, ItaliaVerified email at unicz.it
Antonio GambardellaUniversità degli Studi "Magna Graecia" CatanzaroVerified email at unicz.it
Renzo GuerriniProfessore di Neuropsichiatria Infantile, Università di FirenzeVerified email at meyer.it
Emilio RussoUniversity Magna Grecia of CatanzaroVerified email at unicz.it
Michele IacominoInstitute G. Gaslini, GenovaVerified email at virgilio.it
Francesca BisulliIRCCS Istituto delle Scienze Neurologiche di Bologna (ISNB)Verified email at unibo.it
Mariasavina SeverinoIRCCS Istituto Giannina GasliniVerified email at gaslini.org
Alberto SpaliceProfessore Associato Pediatria La sapienza università RomaVerified email at uniroma1.it
Raffaele FalsaperlaUOC Pediatria, Neonatologia e TINVerified email at ao-ve.it
Ganna BalaguraUniversità degli Studi di GenovaVerified email at edu.unige.it
Berge MinassianProfessor, Pediatrics, University of Toronto, Sr. Scientist, Genetics and Genome Biology, Sick KidsVerified email at sickkids.ca
Valeria CapraIstituto Giannina GasliniVerified email at gaslini.org
Diego PeroniUniversita' di FerraraVerified email at unife.it
Francesco BrigoInnovation, Research and Teaching Service - Bolzano/Bozen, ItalyVerified email at sabes.it
Alice BonuccelliAzienda Ospedaliera Universitaria PisanaVerified email at ao-pisa.toscana.it
Angelo LabateFull Professor of Neurology, University of MessinaVerified email at unime.it

Pasquale Striano, MD, PhD

Pediatric neurologist, IRCCS 'G. Gaslini'; Professor of Paediatrics, University of Genova

Verified email at gaslini.org

Neurology Paediatrics Epilepsy Genetics Treatment


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Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018	1557	2018
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008	858	2008
Mapping the human genetic architecture of COVID-19 W leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai Masahiro 2, ... Nature 600 (7889), 472-477, 2021	851	2021
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017	574	2017
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ... Brain 141 (2), 391-408, 2018	490	2018
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014	474*	2014
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ... Brain 129 (7), 1892-1906, 2006	388	2006
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016	342	2016
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015	305	2015
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies International League Against Epilepsy Consortium on Complex Epilepsies The Lancet Neurology 13 (9), 893-903, 2014	302	2014
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015	300	2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015	298	2015
De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018	295	2018
Posterior reversible encephalopathy syndrome in intensive care medicine G Servillo, F Bifulco, E De Robertis, O Piazza, P Striano, F Tortora, ... Intensive care medicine 33, 230-236, 2007	292	2007
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019	274	2019
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013	267	2013
Posterior reversible encephalopathy syndrome: the endothelial hypotheses A Marra, M Vargas, P Striano, L Del Guercio, P Buonanno, G Servillo Medical hypotheses 82 (5), 619-622, 2014	263	2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathy C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ... Nature genetics 46 (6), 640-645, 2014	258	2014
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ... Neurology 81 (19), 1697-1703, 2013	251	2013
Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013 P Pavone, P Striano, R Falsaperla, L Pavone, M Ruggieri Brain and development 36 (9), 739-751, 2014	250	2014

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