FOCAL CORTICAL DYSPLASIA
PATTERN OF INHERITANCE
De novo gene abnormalities are implicated. These are mostly
somatic mutations, but
germline mutations can occur.
Familial cases are reported only exceptionally.
Recently gene abnormalities in mTOR pathway genes have ben found in
some patients with FCD type II. These gene abnormalities may be
or somatic (TSC2).
Rare familial cases of FCD have been reported in patients with gene
abnormalities in DEPDC5
genes. There is variable expressivity in these patients, with some
family members seemingly unaffected, others with focal epilepsy and
normal MRI and others with FCD.