Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike ‐and‐wave activation in sleep

ConclusionThese findings widen the genetic heterogeneity of DEE-SWAS, includingPARS2 as a causative gene in this syndromic entity, and highlight the importance of prolonged sleep EEG recording for the recognition of SWAS as a possible electroclinical evolution ofPARS2-related DEE.

Source: Molecular Genetics & Genomic Medicine - December 13, 2023 Category: Genetics & Stem Cells Authors: Laura Licchetta, Lucia Di  Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli Tags: ORIGINAL ARTICLE Source Type: research