To summarize the clinical characteristics, treatment response, and prognosis of epilepsy associated with SYNGAP1 gene variants, highlighting the importance of these findings for clinical practice.
Key Findings:
Median age at seizure onset was 2 years and 8 months.
All patients exhibited moderate to severe developmental delays, particularly in language.
Seizure types included myoclonic seizures, eyelid myoclonia, and absence seizures, with EEG showing generalized or multifocal epileptiform discharges.
All variants were de novo, with three previously unreported variant sites.
Valproate was effective in five patients, with some requiring combination therapy for seizure control.
Interpretation:
Myoclonic seizures and absence seizures are prevalent in SYNGAP1-related epilepsy, with valproate being a common treatment; however, combination therapy may be necessary for optimal control, emphasizing the need for tailored treatment strategies.
Limitations:
Small sample size of only six cases.
Retrospective nature may limit the comprehensiveness of data, introducing potential biases.
Conclusion:
SYNGAP1-related epilepsy presents with diverse seizure types and significant neurodevelopmental impairment, necessitating careful management and often combination therapy for effective seizure control, highlighting the need for further research in this area.
