Skip to main content
OpenTrials
Completed

NCT Number: NCT06222840

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Epileptic Syndromes Brain Diseases Central Nervous System Diseases Epilepsy Mental Disorders Nervous System Diseases Neurodevelopmental Disorders

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Saint Etienne

Saint-Etienne, 42000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Electro-clinical analysis of epileptic seizures

Other

Electro-clinical analysis of epileptic seizures

Electro-encephalographic cases

Other

Electro-encephalographic connectivity analysis compared to controls

Clinical datas analysis

Other

Clinical datas analysis

Electro-encephalographic control

Other

Electro-encephalographic connectivity analysis compared to cases

Primary outcomes

  1. Electroencephalographic functional connectivity mapping

    Time frame: Month 6

    Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy

Secondary outcomes

  1. Electroencephalographic reading grid

    Time frame: Month 6

    Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne

Other

Registry information

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Jan 25, 2024
Registry last updated
Jan 25, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.