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Seizures and EEG pattern in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
dysmorphogenic
disorder
that
is
characterized
by
multiple
congenital
abnormalities
with
central
nervous
system
involvement
.
The
diagnosis
is
clinical
and
a
variable
degree
of
mental
retardation
is
always
present
.
Epilepsy
is
frequently
reported
,
but
a
typical
electroclinical
pattern
has
not
been
described
.
We
describe
the
electroclinical
features
of
eight
KS
non-
Japanese
patients
with
epilepsy
.
We
analysed
seizure
characteristics
and
pattern
EEG
and
clinical
outcomes
in
eight
KS
patients
.
All
patients
presented
with
focal
seizures
.
A
frontal
epileptic
status
was
present
in
two
cases
.
We
highlighted
the
fact
that
,
during
evolution
,
seven
patients
shared
the
same
interictal
EEG
pattern
,
which
was
characterized
by
isolated
or
repetitive
biphasic
spikes
or
sharp
waves
,
followed
by
a
slow
wave
of
medium
and
high
voltage
,
predominantly
localised
in
the
fronto-
central
regions
.
The
natural
course
of
seizures
is
favourable
.
Our
results
showed
a
peculiar
homogeneous
electroclinical
pattern
in
KS
,
characterized
by
focal
seizures
more
frequently
origin
in
fronto-
central
area
which
demonstrated
that
seizures
are
mostly
focal
in
type
and
that
a
fronto-
central
origin
is
more
frequently
evident
.
Diseases
Validation
Diseases presenting
"slow wave"
symptom
kabuki syndrome
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