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

Completed

• Conditions: Epileptic Syndromes
• Interventions: Other: Electro-encephalographic control; Other: Electro-clinical analysis of epileptic seizures; Other: Electro-encephalographic cases; Other: Clinical datas analysis

• Registration Number: NCT06222840
• Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-04-01
• Status Verified: 2023-07
• Primary Completion: 2023-10-31
• Study Completion: 2023-10-31
• Study First Submitted: 2023-12-12
• Study First Submitted QC: 2024-01-15
• Last Update Submitted: 2024-01-15
• Study First Posted: 2024-01-25
• Last Update Posted: 2024-01-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 75

Inclusion Criteria

• Cases : SYN1 gene mutation, available electroencephalographic and clinical data.
• Controls : older than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as normal, no neurological disease (particularly no epilepsy), no neuroimaging abnormality.

Exclusion Criteria

• Controls : younger than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as abnormal, neurological disease (particularly epilepsy), neuroimaging abnormality.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Arm 2	Electro-encephalographic control	control cases
Arm 1	Electro-encephalographic cases	cases with SYN1 gene mutation
Arm 1	Clinical datas analysis	cases with SYN1 gene mutation
Arm 1	Electro-clinical analysis of epileptic seizures	cases with SYN1 gene mutation

Primary Outcome Measures

Name	Time	Method
Electroencephalographic functional connectivity mapping	Month 6	Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy

Secondary Outcome Measures

Name	Time	Method
Electroencephalographic reading grid	Month 6	Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls

Trial Locations

Locations (1)

CHU Saint Etienne; 🇫🇷 Saint-Étienne, France