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

ABSTRACT:

Objective

There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.

Methods

In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro-clinical data from 10 epileptic seizures in 5 patients, using prolonged video-EEG monitoring recordings. Inter-ictal EEG functional connectivity parameters and frequency spectrum of the 10 patients over 12 years of age, were com

SUBMITTER: Moya Quiros V 

PROVIDER: S-EPMC11683167 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature