Phenotypes in Children With SYNGAP1 Encephalopathy in China.

ABSTRACT: Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype-phenotype correlations. Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children's Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied. Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites

SUBMITTER: Zhang H 

PROVIDER: S-EPMC8678593 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature