National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

ABSTRACT:

Background

We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods

Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022. These data were used as a proxy to estimate the prevalence rate of DEEs.

Results

We included 1568 unique patients and found a mean incidence proportion of 2.6 patients for 100.000 inhabitants (SD=1.13) with consi

SUBMITTER: Mei D 

PROVIDER: S-EPMC11877070 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature