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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

75 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-04-01

Study Completion Date

2023-10-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Epileptic Syndromes

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Study Groups

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Arm 1

cases with SYN1 gene mutation

Electro-clinical analysis of epileptic seizures

Intervention Type OTHER

Electro-clinical analysis of epileptic seizures

Electro-encephalographic cases

Intervention Type OTHER

Electro-encephalographic connectivity analysis compared to controls

Clinical datas analysis

Intervention Type OTHER

Clinical datas analysis

Arm 2

control cases

Electro-encephalographic control

Intervention Type OTHER

Electro-encephalographic connectivity analysis compared to cases

Interventions

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Electro-clinical analysis of epileptic seizures

Intervention Type OTHER

Electro-encephalographic cases

Electro-encephalographic connectivity analysis compared to controls

Intervention Type OTHER

Clinical datas analysis

Intervention Type OTHER

Electro-encephalographic control

Electro-encephalographic connectivity analysis compared to cases

Intervention Type OTHER

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No