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

Epileptic Syndromes Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT06222840
• Other study ID #: IRBN662023/CHUSTE
• Status: Completed
• Start date: April 1, 2023
• Est. completion date: October 31, 2023

Study information

• Verified date: July 2023
• Source: Centre Hospitalier Universitaire de Saint Etienne
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 75
• Est. completion date: October 31, 2023
• Est. primary completion date: October 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Epilepsy
• Epileptic Syndromes

Intervention

Other:
• Electro-clinical analysis of epileptic seizures
Electro-clinical analysis of epileptic seizures
• Electro-encephalographic cases
Electro-encephalographic connectivity analysis compared to controls
• Clinical datas analysis
Clinical datas analysis
• Electro-encephalographic control
Electro-encephalographic connectivity analysis compared to cases

Locations

Country	Name	City	State
France	CHU Saint Etienne	Saint-Étienne

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Saint Etienne

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Electroencephalographic functional connectivity mapping	Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy	Month 6
Secondary	Electroencephalographic reading grid	Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls	Month 6