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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Arm 1 | cases with SYN1 gene mutation |
| |
| Arm 2 | control cases |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Electro-clinical analysis of epileptic seizures | Other | Electro-clinical analysis of epileptic seizures |
|
| Measure | Description | Time Frame |
|---|---|---|
| Electroencephalographic functional connectivity mapping | Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy | Month 6 |
| Measure | Description | Time Frame |
|---|---|---|
| Electroencephalographic reading grid | Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls | Month 6 |
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Inclusion Criteria:
Exclusion Criteria:
- Controls : younger than 12 years at the moment of the electroencephalogram recording, electroencephalogram considered as abnormal, neurological disease (particularly epilepsy), neuroimaging abnormality.
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SYN1 gene mutation patients and controls
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| Name | Affiliation | Role |
|---|---|---|
| Laure MAZZOLA, MD | Centre Hospitalier Universitaire de Saint Etienne | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Saint Etienne | Saint-Etienne | 42000 | France |
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| 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 |
|
| ID | Term |
|---|---|
| D000073376 | Epileptic Syndromes |
| D065886 | Neurodevelopmental Disorders |
| ID | Term |
|---|---|
| D004827 | Epilepsy |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D001523 | Mental Disorders |
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