DNA onderzoek om symptomen bij epilepsie of koortsstuipen te kunnen voorspellen

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON27611

Enrollment

200

Registered

2015-01-06

Start date

2015-02-01

Completion date

Unknown

Last updated

2024-06-11

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

Conditions

Dravet syndrome

Interventions

None listed

Eligibility

Inclusion criteria

Inclusion criteria: -patients with SCN1A related epilepsy/febrile seizures and their parents -living in the Netherlands -informed consent form signed

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
Classification of developmental outcome, rated independently by a child neurologist, neuropsychologist, and clinical geneticist	—

Secondary

Measure	Time frame
-Intelligence quotient -Epilepsy syndrome classification -Mobility -Quality of life -Behavioural difficulties	—

Contacts

Public ContactR.S. Boerma

r.s.boerma@umcutrecht.nl

Outcome results