Diagnosis:
Pathology is the gold standard, but MRI is an excellent test for diagnosis
Clinical features:
epilepsy
Findings on Investigations:
MRI:
- Subepindymal, subcortical or band/diffuse
- Subcortical band heterotopia
FDG-PET:
- Intertictal: increase uptake in the subcortical band.
EEG: interictal & ictal abnormalities
Genetic forms:
doublecortin (DCX) gene, X-linked. Blood testing available. MRI in affected men: lissencephaly, MRI in affected women: double cortex band heterotopia, subcortical laminar heterotopia, lissencephaly
Human Filamin A gene FLNA mutations, filamin, X-linked. MRI: bilateral perventricular heterotopia
Laminin genes, MRI: Perventricular heterotopia