DNA onderzoek om symptomen bij epilepsie of koortsstuipen te kunnen voorspelle

• Conditions: Dravet syndrome; GEFS+; epileptic encephalopathy; Dravet syndroom; seizures; koortsstuipen

• Registration Number: NL-OMON27611
• Lead Sponsor: niversity Medical Center Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 11 June 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 200

Inclusion Criteria

patients with SCN1A related epilepsy/febrile seizures and their parents

-living in the Netherlands

Exclusion Criteria

-patients with a variant of unknown significance (class III) in the SCN1A gene

Study & Design

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

Primary Outcome Measures

Name	Time	Method
Classification of developmental outcome, rated independently by a child neurologist, neuropsychologist, and clinical geneticist

Secondary Outcome Measures

Name	Time	Method
-Intelligence quotient<br /><br>-Epilepsy syndrome classification<br /><br>-Mobility<br /><br>-Quality of life <br /><br>-Behavioural difficulties <br><br>