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Article

Clinical Analysis of SYNGAP1 Variant-Related Neurodevelopmental Disorders in Chinese Children.

Clinical genetics - 1 Jul 2026

Zhang Jia, Shen Yajun, Xue Gong, Wang Xiaoqian, Rao Xueyi, Chen Jun, Fan Lijuan, Liu Liqin, Gan Jing

Abstract excerpt

This study aims to characterize the clinical phenotypes of children with SYNGAP1-related neurodevelopmental disorders (SRDs), explore the genotype-phenotype correlation, and guide optimal clinical management. Clinical data of 99 Chinese children with SRDs were retrospectively collected, including genetic results, clinical features, electroencephalogram (EEG), cranial imaging, and treatment responses. The...

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Source

Identifiers

PMID: 41914539
DOI: 10.1111/cge.70168

Genes

SYNGAP1
C2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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