Lorella Caffi

Ospedale Papa Giovanni XXIII — Italy

Medicine · Health Sciences

10h-index533citations13works0.02yr avg
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Research Topics

Epilepsy research and treatment(4), Genetics and Neurodevelopmental Disorders(3), Liver Disease and Transplantation(2), Liver Disease Diagnosis and Treatment(2), Infant Development and Preterm Care(2)

Publications13 total

The Conundrum of Cognitive Dysfunction in Children With Portal Hypertension: The Experience of Bergamo, Italy
Journal of Clinical and Experimental Hepatology·2021· 2 citedOpen Access
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
European Journal of Paediatric Neurology·2020· 26 cited
Atypical presentation of pediatric <i>BRAF</i> RASopathy with acute encephalopathy
American Journal of Medical Genetics Part A·2018· 31 cited
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study
Epilepsia·2018· 52 citedOpen Access
A Randomized Double Blind Placebo Controlled Trial about the Effect of Probiotics on Cognitive Findings of Children with Portal Hypertension
Journal of Clinical and Experimental Hepatology·2017
A novel mutation in <i>COL4A1</i> gene: A possible cause of early postnatal cerebrovascular events
American Journal of Medical Genetics Part A·2015· 10 cited
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene
Clinical Genetics·2014· 86 cited
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
BMC Medical Genetics·2013· 49 citedOpen Access
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME
2013
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
Epilepsia·2013· 122 citedOpen Access
Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy
Epilepsia·2012· 76 citedOpen Access
A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample.
PubMed·2006· 10 cited
Neurodevelopmental Outcome at 5-7 Years in Preterm Infants with Periventricular Leukomalacia
Neuropediatrics·1994· 69 cited

Frequent Co-authors

Nicola Specchio(3), Pasquale Striano(3), Francesca Darra(3), Bernardo Dalla Bernardina(3), Lucio Giordano(3), Renzo Guerrini(3), Massimo Mastrangelo(3), Marilena Vecchi(3), Federico Vigevano(3), Patrizia Accorsi(3), Simona Orcesi(3), Federico Zara(2), Francesca Beccaria(2), Lucia Fusco(2), Luigina Spaccini(2), Francesca Vanadia(2), Gloria Negri(2), Daniele Rusconi(2), L. Consonni(2), Palma Finelli(2)