- Autosomal dominant inheritance (with at least 2 first degree family members or 3 generations affected)
- Electrographically-proven generalised seizures, which may, or may not be associated with intellectual impairment; and febrile seizures or febrile seizures plus;
- Focal seizures form are a minor part of the family phenotype
- SCN1A positive;
- No family history of febrile seizures (recruit under familial GGE);
- No family history of generalised seizure disorder;
- Suspected acquired cause of epilepsy based on history or imaging;
- Previously identified genetic cause of epilepsy
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
These requirements will be kept under continual review during the main programme and may be subject to change.