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

NCT06222840 | Completed

• 1 other identifier: IRBN662023/CHUSTE
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

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.

Conditions

Epileptic Syndromes

Keywords

SYN1 mutation; reflex bathing epilepsy; neurodevelopmental disorders; connectivity analysis; electro-encephalographic seizure pattern

Outcome Measures

Primary Outcomes (1)

• Electroencephalographic functional connectivity mapping

  Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy

  Month 6

Secondary Outcomes (1)

• Electroencephalographic reading grid

  Month 6

Study Arms (2)

Arm 1

cases with SYN1 gene mutation

Other: Electro-clinical analysis of epileptic seizures; Other: Electro-encephalographic cases; Other: Clinical datas analysis

Arm 2

control cases

Other: Electro-encephalographic control

Interventions

Electro-clinical analysis of epileptic seizures OTHER

Electro-clinical analysis of epileptic seizures

Arm 1

Electro-encephalographic cases OTHER

Electro-encephalographic connectivity analysis compared to controls

Arm 1

Clinical datas analysis OTHER

Clinical datas analysis

Arm 1

Electro-encephalographic control OTHER

Electro-encephalographic connectivity analysis compared to cases

Arm 2

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SYN1 gene mutation patients and controls

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead

Study Sites (1)

CHU Saint Etienne

Saint-Etienne, 42000, France

Location

MeSH Terms

Conditions

Epileptic Syndromes; Neurodevelopmental Disorders

Condition Hierarchy (Ancestors)

Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders

Study Officials

• Laure MAZZOLA, MD

  CHU SAINT-ETIENNE

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 12, 2023
• First Posted: January 25, 2024
• Study Start: April 1, 2023
• Primary Completion: October 31, 2023
• Study Completion: October 31, 2023
• Last Updated: January 25, 2024

Record last verified: 2023-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)