BERNARDO P.

Last name: BERNARDO P.

2019 (v1)

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Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy

Bernardo P. Ferretti A. Terrone G.

Aims. To further characterise CDKL5-related disorder, previously classified as an early-onset seizure variant of Rett syndrome, which is currently considered a specific and independent early-infantile epileptic encephalopathy. Methods. We describe the epileptic phenotype and neurocognitive development in three girls with CDKL5 mutations showing...

Uploaded on: April 14, 2023
2020 (v1)

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Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Alagia M. Bernardo P. Genesio R.

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Uploaded on: February 14, 2024
2017 (v1)

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CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation

Bernardo P. Galletta D. Iasevoli F.

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Uploaded on: April 14, 2023
2016 (v1)

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17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Bernardo P. Madia F. Santulli L.

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with...

Uploaded on: April 14, 2023

BERNARDO P.

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