PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.

ABSTRACT:

Background and objectives

Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.

Methods

Data on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.

Results

A cohort of 142 patients was included. Characteristics of the PURA syndrome

SUBMITTER: Johannesen KM 

PROVIDER: S-EPMC8592566 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature