De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Purpose: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213 with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations.

IQ changes after pediatric epilepsy surgery: a systematic review and meta-analysis.

Objective: This systematic review aimed to assess the intellectual outcome of children who underwent surgery for epilepsy.

Methods: A systematic review of electronic databases was conducted on December 3, 2021, for PubMed and January 11, 2022, for Web of Science. The review was conducted according to the PRISMA guidelines.