Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

Area of Science:

• Neuroscience
• Genetics
• Epilepsy Research

Background:

• Limited data exists on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations.
• Understanding these features is crucial for diagnosis and management.

Purpose of the Study:

• To investigate the clinical and electroencephalographic (EEG) features in patients with epilepsy and SYN1 variants.
• To identify a distinctive electroclinical pattern associated with SYN1 variations.

Main Methods:

• Retrospective multicenter study of 19 male patients with SYN1 variants.
• Analysis of interictal EEG and electro-clinical data from 10 seizures in 5 patients.
• Comparison of EEG functional connectivity and frequency spectrum with age- and sex-matched controls.

Main Results:

• Normal EEG background with rare interictal abnormalities.
• Over 60% of patients experienced reflex seizures (water, defecation triggers).
• Seizures showed temporal/temporo-insulo/perisylvian semiology with autonomic features; ictal EEG revealed rhythmic theta/delta activity in temporo-perisylvian regions.

Conclusions:

• A distinct epilepsy syndrome associated with SYN1 variations is identified.
• This syndrome exhibits a characteristic clinical and EEG pattern.
• Findings suggest predominant temporo-insular involvement in SYN1-related epilepsy.