Malformations of cortical development

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 Inclusion Criteria:

  • Evidence of diffuse or focal cortical brain malformation on brain MRI or pathology, AND
  • MCD the cardinal feature, AND
  • Appropriate known gene, if testing available via UKGTN, excluded , AND
  • Congenital infection, especially CMV, has been excluded if suggested by phenotype

 Exclusion Criteria:

  • Brain MRI or pathology not available
  • Known genetic cause
  • Evidence of congenital infection
  • Known metabolic condition
  • Raised CK levels indicative of muscle-eye-brain disease
  • Diagnosis of Tuberous Sclerosis
  • MCD clearly part of a known MCA syndrome with a known cause
  • Fetal cases – these should be recruited to the fetal structural brain anomaly category

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:

1. Microarray
2. Exclusion of PAFAH1B1 and DCX gene deletions using MLPA or similar method where appropriate.
3. Single MCD gene or MCD gene panel testing as guided by phenotype.

Closing statement

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

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