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Blood-brain barrier, ion homeostatis and epilepsy: possible implications towards the understanding of ketogenic diet mechanisms.
[pyruvate dehydrogenase deficiency]
The
finding
that
epileptic
seizures
alter
blood
-
brain
barrier
(
BBB
)
properties
has
stimulated
interest
into
the
possibility
that
phenotypic
changes
in
brain
endothelium
may
constitute
a
pathological
initiator
leading
to
seizures
.
Recent
evidence
obtained
from
epileptic
patients
undergoing
cortical
resection
,
demonstrated
abnormal
expression
of
glucose
transporter
molecules
(
GLUT
1
)
,
while
[
18
F
]
deoxyglucose
PET
studies
demonstrated
regions
of
decreased
glucose
uptake
and
hypometabolism
in
seizure
foci
.
The
properties
of
other
'
nonexcitable
CNS
cells
'
are
also
altered
in
epileptic
tissue
,
and
glial
cells
from
epileptic
brain
displayed
diminished
capacity
for
ionic
homeostasis
;
voltage-dependent
mechanisms
were
primarily
affected
,
increasing
reliance
on
energy-dependent
mechanisms
.
Diminished
ion
homeostasis
together
with
increased
metabolic
demand
of
hyperactive
neurons
may
further
aggravate
the
neuropathological
consequences
of
BBB
loss
of
glucose
uptake
mechanisms
.
Since
ketone
bodies
can
provide
an
alternative
to
glucose
to
support
brain
energy
requirements
,
it
is
hypothesized
that
one
of
the
mechanisms
of
the
ketogenic
diet
in
epilepsy
may
relate
to
increased
availability
of
beta
-hydroxybutyrate
,
a
ketone
body
readily
transported
at
the
BBB
.
This
hypothesis
is
supported
by
the
fact
that
the
ketogenic
diet
is
the
treatment
of
choice
for
the
glucose
transporter
protein
syndrome
and
pyruvate
dehydrogenase
deficiency
,
both
associated
with
cerebral
energy
failure
and
seizures
.
Diseases
Validation
Diseases presenting
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated