Journal article
PURA-Related Developmental and Epileptic Encephalopathy
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 …
Authors
Johannesen KM; Gardella E; Gjerulfsen CE; Bayat A; Rouhl RPW; Reijnders M; Whalen S; Keren B; Buratti J; Courtin T
Journal
Neurology Genetics, Vol. 7, No. 6,
Publisher
Wolters Kluwer
Publication Date
December 2021
DOI
10.1212/nxg.0000000000000613
ISSN
2376-7839