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Your search keyword '"Silvia Cappanera"' showing total 3 results
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3 results on '"Silvia Cappanera"'

1. A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

Author

Antonella Riva, Roberta Roberti, Gianluca D'Onofrio, Maria Stella Vari, Elisabetta Amadori, Valentina De Giorgis, Caterina Cerminara, Nicola Specchio, Nicola Pietrafusa, Mario Tombini, Giovanni Assenza, Silvia Cappanera, Carla Marini, Paolo Rasmini, Pierangelo Veggiotti, Federico Zara, Emilio Russo, and Pasquale Striano

Subjects
antiseizure medications, epilepsy, pharmacogenomics, precision medicine, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug reactions (ADRs). We investigated the clinical utility of salivary pharmacogenomic testing on epilepsy patients. A commercialized pharmacogenomic salivary test was performed in a cohort of epileptic patients. Genetic variants on five genes (i.e., CYP1A2, CYP2C9, CYP2C19, EPHX1, and ABCB1) involved in common ASMs metabolism were selected. Twenty‐one individuals (median age [Q1–Q3]: 15 [6.5–28] years) were enrolled. Six patients harboring the homozygous *1F allele in CYP1A2 could have reduced chance of response to stiripentol due to fast metabolism. CYP2C9 had reduced activity in 10 patients (alleles *2 and *3), potentially affecting phenytoin (PHT), phenobarbital (PB), primidone, lacosamide (LCM), and valproic acid metabolism. Seven patients, carrying the *2 allele of CYP2C19, had an increased risk of ADRs with clobazam (CLB), PB, PHT, LCM, brivaracetam; while one individual with the *17 allele in heterozygosity reported a CLB fast metabolism. Six patients showed a CC polymorphism of EPHX1 associated with the impaired efficacy of carbamazepine. ABCB1 polymorphisms related to drug‐resistance (3435 CC) or drug‐sensitive phenotype (CT or TT) were found in 6 out of 7 patients. Pharmacogenomic testing on saliva proved easy and safe in clinical practice to convey information for the management of epileptic patients, especially those resistant to treatment or sensitive to severe ADRs.

Published
2023
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2. Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Author

Sara Matricardi, Elisabetta Cesaroni, Paolo Bonanni, Nicoletta Foschi, Alfredo D′Aniello, Giancarlo Di Gennaro, Pasquale Striano, Silvia Cappanera, Sabrina Siliquini, Elena Freri, Francesca Ragona, Tiziana Granata, Francesco Deleo, Flavio Villani, Angelo Russo, Tullio Messana, Laura Siri, Irene Bagnasco, Aglaia Vignoli, Francesca Felicia Operto, Alessandro Orsini, Alice Bonuccelli, Amanda Papa, Cinzia Peruzzi, Claudio Liguori, Alberto Verrotti, Francesco Chiarelli, Carla Marini, and Simona Lattanzi

Subjects
Neurology, Neurology (clinical)
Published
2023

3. First reported case of an inherited PACS2 pathogenic variant with variable expression

Author

Elisabetta, Cesaroni, Sara, Matricardi, Silvia, Cappanera, and Carla, Marini

Subjects
Epilepsy, Phenotype, Cerebellum, Developmental Disabilities, Intellectual Disability, Mutation, Missense, Humans, Female, Child
Abstract

Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions.

Published
2022

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