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FRERI , Elena

Last name: FRERI

First name: Elena

2015 (v1)

Publication

Metadata-only

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita, Francesco Garone, Giacomo Spalice, Alberto

Seizures are rarely reported in Williams-Beuren syndrome (WBS)-a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb-and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be...

Uploaded on: April 14, 2023
2015 (v1)

Publication

Metadata-only

Long-term outcome of epilepsy in patients with prader–willi syndrome

Verrotti, Alberto Cusmai, Raffaella Laino, Daniela

No description

Uploaded on: April 14, 2023
2020 (v1)

Publication

Metadata-only

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Malerba, Federica Alberini, Giulio Balagura, Ganna

ObjectiveEarly identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo KCNQ2 pathogenic variants to dissect genotype-phenotype correlations.MethodsPatients with de novo KCNQ2 pathogenic variants...

Uploaded on: April 14, 2023