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8 results on '"Taruffi, Lisa"'

2. Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients

Author

Muccioli, Lorenzo, primary, Bruschi, Giulia, additional, Ferri, Lorenzo, additional, Scarabello, Anna, additional, Taruffi, Lisa, additional, Di Vito, Lidia, additional, Mostacci, Barbara, additional, Provini, Federica, additional, Calandra-Buonaura, Giovanna, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, and Bisulli, Francesca, additional

Published
2024
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5. Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.

Author

Licchetta, Laura, Di Giorgi, Lucia, Santucci, Margherita, Taruffi, Lisa, Stipa, Carlotta, Minardi, Raffaella, Carelli, Valerio, and Bisulli, Francesca

Subjects
PEOPLE with epilepsy, LITERATURE reviews, CEREBRAL atrophy, GENETIC variation, BRAIN diseases, ACID-base imbalances
Abstract

Background: Biallelic pathogenic variants in the mitochondrial prolyl‐tRNA synthetase 2 gene (PARS2, OMIM * 612036) have been associated with Developmental and Epileptic Encephalopathy‐75 (DEE‐75, MIM #618437). This condition is typically characterized by early‐onset refractory infantile spasms with hypsarrhythmia, intellectual disability, microcephaly, cerebral atrophy with hypomyelination, lactic acidemia, and cardiomyopathy. Most affected individuals do not survive beyond the age of 10 years. Methods: We describe a patient with early‐onset DEE, consistently showing an EEG pattern of Spike‐and‐Wave Activation in Sleep (SWAS) since childhood. The patient underwent extensive clinical, metabolic and genetic investigations, including whole exome sequencing (WES). Results: WES analysis identified compound heterozygous variants in PARS2 that have been already reported as pathogenic. A literature review of PARS2‐associated DEE, focusing mainly on the electroclinical phenotype, did not reveal the association of SWAS with pathogenic variants in PARS2. Notably, unlike previously reported cases with the same genotype, this patient had longer survival without cardiac involvement or lactic acidosis, suggesting potential genetic modifiers contributing to disease variability. Conclusion: These findings widen the genetic heterogeneity of DEE‐SWAS, including PARS2 as a causative gene in this syndromic entity, and highlight the importance of prolonged sleep EEG recording for the recognition of SWAS as a possible electroclinical evolution of PARS2‐related DEE. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Risk of hospitalization and death for COVID‐19 in persons with epilepsy over a 20‐month period: The EpiLink Bologna cohort, Italy

Author

Muccioli, Lorenzo, primary, Zenesini, Corrado, additional, Taruffi, Lisa, additional, Licchetta, Laura, additional, Mostacci, Barbara, additional, Di Vito, Lidia, additional, Pasini, Elena, additional, Volpi, Lilia, additional, Riguzzi, Patrizia, additional, Ferri, Lorenzo, additional, Baccari, Flavia, additional, Nonino, Francesco, additional, Michelucci, Roberto, additional, Tinuper, Paolo, additional, Vignatelli, Luca, additional, and Bisulli, Francesca, additional

Published
2022
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8. Cognitive and Functional Connectivity Impairment in Post-COVID-19 Olfactory Dysfunction

Author

Muccioli, Lorenzo, primary, Sighinolfi, Giovanni, additional, Mitolo, Micaela, additional, Ferri, Lorenzo, additional, Rochat, Magali Jane, additional, Pensato, Umberto, additional, Taruffi, Lisa, additional, Testa, Claudia, additional, Masullo, Marco, additional, Cortelli , Pietro, additional, Lodi, Raffaele, additional, Liguori, Rocco, additional, Tonon, Caterina, additional, and Bisulli, Francesca, additional

Published
2022
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