Clinical and molecular genetic aspects of idiopathic epilepsies

Recruiting

• Conditions: epilepsy; seizures; 10029299; 10039911

• Registration Number: NL-OMON35523
• Lead Sponsor: Epilepsiecentrum Kempenhaeghe

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 300

Inclusion Criteria

1. Patients with a familial history of epilepsy, with multiple (at least 4) family members affected
2. Patients with a severe form of epilepsy with onset in the first year of life in which no acquired cause can be detected.
3. patients with a combination of epilepsy, mental retardation and dysmorphia (=contiguous gene syndrome, probably caused by deletion/duplication of multiple genes and detectable by CGH)
4. Patients on a ketogenic diet with epilepsy of unknown origin
Theoretically there are no age restrictions. In case of severe epilepsy with early onset (cfr.2), cases with neonatal onset will also be included, but as DNA diagnostics in a genetic research setting only will be done after all other possible causes are excluded, inclusion in this study in actual practice will only be done after 2 months of life.

Exclusion Criteria

Patients in which a acquired cause of epilepsy is suspected (for example perinatal brain damage, lesions visible on MRI,...)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>In this project we want to<br /><br>1) describe new genes or loci<br /><br>2) identify mutations in known epilepsy genes, but in a broader population than<br /><br>the one in which the gene was originally described.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not applicable</p><br>