Journal article
PRRT2-Related Epilepsy
Abstract
Background and Objectives: Pathogenic variants in the PRRT2 gene cause self-limited infantile epilepsy (SeLIE). Recently, atypical epilepsy phenotypes have been described. We explore the phenotypic spectrum of PRRT2-related epilepsy through international collaboration.
Methods: All children with epilepsy and either a pathogenic PRRT2 variant or 16p11.2 microdeletion encompassing the PRRT2 gene were included in this retrospective study. Details …
Authors
Komar M; Sidhu J; Joseph J; Kumar A; Callen DJA; Mesterman R; Ramachandrannair R; Jones KC; Meaney BF; Singh S
Journal
Neurology Genetics, Vol. 11, No. 3,
Publisher
Wolters Kluwer
Publication Date
6 2025
DOI
10.1212/nxg.0000000000200267
ISSN
2376-7839