Pasquale Striano
Pasquale Striano
Pediatric neurologist, University of Genova, 'G. Gaslini' Institute
Verified email at gaslini.org
TitleCited byYear
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
6492008
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
2572006
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
2272018
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 (2), 230-236, 2007
2032007
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
1752014
Characterization of a recurrent 15q24 microdeletion syndrome
AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, ...
Human molecular genetics 16 (5), 567-572, 2007
1742007
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ...
Epilepsia 50 (7), 1670-1678, 2009
1522009
Posterior reversible encephalopathy syndrome (PRES) in critically ill obstetric patients
G Servillo, P Striano, S Striano, F Tortora, P Boccella, E De Robertis, ...
Intensive care medicine 29 (12), 2323-2326, 2003
1472003
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
1392013
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug‐refractory epilepsy
MP Canevini, G De Sarro, CA Galimberti, G Gatti, L Licchetta, A Malerba, ...
Epilepsia 51 (5), 797-804, 2010
1342010
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy
C Nobile, R Michelucci, S Andreazza, E Pasini, SCE Tosatto, P Striano
Human mutation 30 (4), 530-536, 2009
1302009
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Mřller, B Maher, ...
Nature genetics 47 (4), 393, 2015
1262015
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
1252015
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, 2014
1242014
Clinical spectrum and critical care management of Posterior Reversible Encephalopathy Syndrome (PRES).
P Striano, S Striano, F Tortora, E De Robertis, D Palumbo, A Elefante, ...
Medical Science Monitor 11 (11), CR549-CR553, 2005
1192005
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy
P Striano, A Coppola, M Pezzella, C Ciampa, N Specchio, F Ragona, ...
Neurology 69 (3), 250-254, 2007
1182007
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, 2015
1152015
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
1152013
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32
Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ...
Human molecular genetics 21 (24), 5359-5372, 2012
1132012
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
A Falace, F Filipello, V La Padula, N Vanni, F Madia, DDP Tonelli, ...
The American Journal of Human Genetics 87 (3), 365-370, 2010
1102010
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