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

De novo SYNGAP1 variants, PH domain-DRE correlation (eyelid myoclonic drug-resistant epilepsy)

99 Chinese children with SYNGAP1 variants are retrospectively analyzed for genotype-phenotype correlations. All present with NDD and intellectual disability, and 73% have epilepsy. Protein domain analysis shows that PH domain variants are more strongly associated with drug-resistant epilepsy (DRE) with eyelid myoclonia — a specific phenotype not previously reported. This large Asian cohort (the largest published for SYNGAP1) refines management and prognosis based on variant localization.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The cohort of 99 cases is among the largest published for SYNGAP1 and provides the first domain-phenotype correlation for drug-resistant epilepsy. This result is directly applicable in genetics consultation to anticipate epileptic prognosis and guide therapeutic management based on the mutated domain.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10