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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06222840

Enrollment

Registered

2024-01-25

Start date

2023-04-01

Completion date

2023-10-31

Last updated

2024-01-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Epileptic Syndromes

Keywords

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

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.

Interventions

OTHERElectro-clinical analysis of epileptic seizures

Electro-clinical analysis of epileptic seizures

OTHERElectro-encephalographic cases

Electro-encephalographic connectivity analysis compared to controls

OTHERClinical datas analysis

Clinical datas analysis

OTHERElectro-encephalographic control

Electro-encephalographic connectivity analysis compared to cases

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Electroencephalographic functional connectivity mapping	Month 6	Identify a characteristic electroclinical pattern in SYN1 gene mutation related epilepsy

Secondary

Measure	Time frame	Description
Electroencephalographic reading grid	Month 6	Compare electro-encephalographic connectivity between SYN1 gene mutation patients and controls

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026