Search

Your search keyword '"Marino, Simona D."' showing total 7 results
Start Over Author "Marino, Simona D."
7 results on '"Marino, Simona D."'

1. Drug resistant epilepsies: A multicentre case series of steroid therapy

Author

Falsaperla, Raffaele, Collotta, Ausilia Desiree, Marino, Simona D., Sortino, Vincenzo, Leonardi, Roberta, Privitera, Grete Francesca, Pulvirenti, Alfredo, Suppiej, Agnese, Vecchi, Marilena, Verrotti, Alberto, Farello, Giovanni, Spalice, Alberto, Elia, Maurizio, Spitaleri, Orazio, Micale, Marco, Mailo, Janette, and Ruggieri, Martino

Published
2024
Full Text
View/download PDF

2. SCN1A and Its Related Epileptic Phenotypes.

Author

Sullo, Federica, Pasquetti, Elisa, Patanè, Francesca, Lo Bianco, Manuela, Marino, Simona D., Polizzi, Agata, Falsaperla, Raffaele, Ruggieri, Martino, Zanghì, Antonio, and Praticò, Andrea D.

Subjects
GENETIC mutation, DRAVET syndrome, EPILEPSY, FEBRILE seizures, IMPULSIVE personality, GENES, GENOTYPES, PHENOTYPES
Abstract

Epilepsy is one of the most common neurological disorders, with a lifetime incidence of 1 in 26. Approximately two-thirds of epilepsy has a substantial genetic component in its etiology. As a result, simultaneous screening for mutations in multiple genes and performing whole exome sequencing (WES) are becoming very frequent in the clinical evaluation of children with epilepsy. In this setting, mutations in voltage-gated sodium channel (SCN) α-subunit genes are the most commonly identified cause of epilepsy, with sodium channel genes (i.e., SCN1A , SCN2A , SCN8A) being the most frequently identified causative genes. SCN1A mutations result in a wide spectrum of epilepsy phenotypes ranging from simple febrile seizures to Dravet syndrome, a severe epileptic encephalopathy. In case of mutation of SCN1A , it is also possible to observe behavioral alterations, such as impulsivity, inattentiveness, and distractibility, which can be framed in an attention deficit hyperactivity disorder (ADHD) like phenotype. Despite more than 1,200 SCN1A mutations being reported, it is not possible to assess a clear phenotype–genotype correlations. Treatment remains a challenge and seizure control is often partial and transitory. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

3. SCN1A and Its Related Epileptic Phenotypes

Author

Sullo, Federica, additional, Pasquetti, Elisa, additional, Patanè, Francesca, additional, Lo Bianco, Manuela, additional, Marino, Simona D., additional, Polizzi, Agata, additional, Falsaperla, Raffaele, additional, Ruggieri, Martino, additional, Zanghì, Antonio, additional, and Praticò, Andrea D., additional

Published
2021
Full Text
View/download PDF

6. Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Author

Pavone, Piero, primary, Ruggieri, Martino, additional, Marino, Simona D., additional, Corsello, Giovanni, additional, Pappalardo, Xena, additional, Polizzi, Agata, additional, Parano, Enrico, additional, Romano, Catia, additional, Marino, Silvia, additional, Praticò, Andrea Domenico, additional, and Falsaperla, Raffaele, additional

Published
2020
Full Text
View/download PDF

7. Hypoglossal nerve paralysis in a child after a dental procedure

Author

Marino, Simona D., primary, Schiavone, Laura, additional, La Mendola, Flavia M.C., additional, Timpanaro, Tiziana, additional, Cucuzza, Maria Elena, additional, Greco, Filippo, additional, Smilari, Pierluigi, additional, Fiumara, Agata, additional, and Praticò, Andrea Domenico, additional

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results