Epilepsy plus other features


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Inclusion criteria:

Established diagnosis of epilepsy, confirmed by a neurologist AND with at least one additional phenotype from: intellectual disability, autism spectrum disorder, structural abnormality (e.g. dysmorphism, cerebral or somatic malformation), unexplained cognitive/memory decline OR Consanguineous parents.

Exclusion criteria:

  • Case falls into one of the other GeL epilepsy disease categories
  • Focal, unilateral cerebral malformations

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.

Prior genetic testing genes:

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: As dictated by local practice and clinical phenotype including consideration of SCN1A

Closing statement:

These requirements will be kept under continual review during the main programme and may be subject to change.

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