NCT06222840

Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 75 (actual)
• Sponsor: Centre Hospitalier Universitaire de Saint Etienne · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

SYN1 gene mutation is an X-linked gene mutation that causes numerous pathological manifestations such as seizures and neurodevelopmental disorders. A few descriptions of this disease have been published in the last decade, but the electro-clinical features of epilepsy are still largely unknown. No analysis of electroencephalographic connectivity has yet been performed. The aim of this study is to perform a detailed electro-clinical seizure analysis and electroencephalographic analysis in patients with a SYN1 gene mutation, in an attempt to identify a characteristic pattern that would allow earlier diagnosis and better understanding and management of this disease.

Conditions

• Epileptic Syndromes

Interventions

Type	Name	Description
OTHER	Electro-clinical analysis of epileptic seizures	Electro-clinical analysis of epileptic seizures
OTHER	Electro-encephalographic cases	Electro-encephalographic connectivity analysis compared to controls
OTHER	Clinical datas analysis	Clinical datas analysis
OTHER	Electro-encephalographic control	Electro-encephalographic connectivity analysis compared to cases

Timeline

• Start date: 2023-04-01
• Primary completion: 2023-10-31
• Completion: 2023-10-31
• First posted: 2024-01-25
• Last updated: 2024-01-25

Locations

1 site across 1 country: France