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Atypical focal cortical dysplasia in a patient with Cowden syndrome.
[cowden syndrome]
A
macrocephalic
girl
presented
with
generalised
epilepsy
due
to
focal
cortical
dysplasia
.
She
later
developed
multiple
hamartomatous
lesions
and
was
diagnosed
to
have
Cowden
syndrome
.
The
diagnosis
was
confirmed
by
identification
of
a
novel
frameshift
mutation
in
the
PTEN
gene
of
the
patient
.
