SCN1A-related seizure disorders: prediction of clinical course based on advanced genotyping

Completed

• Conditions: Dravet syndrome; epileptic encephalopathy; Severe Myoclonic Epilepsy in Infancy; 10029299; 10039911

• Registration Number: NL-OMON42281
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 11 June 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 600

Inclusion Criteria

patients with SCN1A related febrile seizures and/or epilepsy and their parents

Exclusion Criteria

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

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Classification of developmental outcome, rated independently by a child<br /><br>neurologist, neuropsychologist, and clinical geneticist. Developmental outcome<br /><br>will be rated on a four-point Likert scale (1= no or mild learning disability,<br /><br>2=moderate learning disability, 3 = severe learning disability, 4= profound<br /><br>learning disability) based on available data on IQ, school functioning, motor<br /><br>skills, communication and adaptive behaviour, and adjusted for age at<br /><br>assessment. The neurologist, neuropsychologist and clinical geneticist will be<br /><br>blinded for the results of genotyping. In case of disagreement about<br /><br>classification, a consensus meeting will be held among the three.</p><br>