Epilepsia,
Journal Year:
2022,
Volume and Issue:
63(6), P. 1349 - 1397
Published: May 3, 2022
Abstract
The
International
League
Against
Epilepsy
(ILAE)
Task
Force
on
Nosology
and
Definitions
proposes
a
classification
definition
of
epilepsy
syndromes
in
the
neonate
infant
with
seizure
onset
up
to
2
years
age.
incidence
is
high
this
age
group
frequently
associated
significant
comorbidities
mortality.
licensing
syndrome
specific
antiseizure
medications
following
randomized
controlled
trials
development
precision,
gene‐related
therapies
are
two
drivers
defining
electroclinical
phenotypes
infancy.
principal
aim
proposal,
consistent
2017
ILAE
Classification
Epilepsies,
support
diagnosis
emphasize
importance
classifying
an
individual
both
by
etiology.
For
each
syndrome,
we
report
epidemiology,
clinical
course,
types,
electroencephalography
(EEG),
neuroimaging,
genetics,
differential
diagnosis.
Syndromes
separated
into
self‐limited
syndromes,
where
there
likely
be
spontaneous
remission
developmental
epileptic
encephalopathies
,
diseases
impairment
related
underlying
etiology
independent
epileptiform
activity
encephalopathy.
emerging
class
etiology‐specific
for
that
clearly
defined,
relatively
uniform,
distinct
phenotype
most
affected
individuals
as
well
EEG,
and/or
genetic
correlates,
presented.
number
etiology‐defined
will
continue
increase,
these
newly
described
time
incorporated
classification.
tables
summarize
mandatory
features,
cautionary
alerts,
exclusionary
features
common
syndromes.
Guidance
given
criteria
resource‐limited
regions
laboratory
confirmation,
including
MRI,
testing,
might
not
available.
Epilepsia Open,
Journal Year:
2020,
Volume and Issue:
5(3), P. 354 - 365
Published: June 27, 2020
Glut1
deficiency
syndrome
(Glut1DS)
is
a
brain
energy
failure
caused
by
impaired
glucose
transport
across
tissue
barriers.
Glucose
diffusion
barriers
facilitated
family
of
proteins
including
transporter
type
1
(Glut1).
Patients
are
treated
effectively
with
ketogenic
diet
therapies
(KDT)
that
provide
supplemental
fuel,
namely
ketone
bodies,
for
metabolism.
The
increasing
complexity
Glut1DS,
since
its
original
description
in
1991,
now
demands
an
international
consensus
statement
regarding
diagnosis
and
treatment.
International
experts
(n
=
23)
developed
utilizing
their
collective
professional
experience,
responses
to
standardized
questionnaire,
serial
discussions
wide-ranging
issues
related
Glut1DS.
Key
clinical
features
signaling
the
onset
Glut1DS
eye-head
movement
abnormalities,
seizures,
neurodevelopmental
impairment,
deceleration
head
growth,
disorders.
Diagnosis
confirmed
presence
these
signs,
hypoglycorrhachia
documented
lumbar
puncture,
genetic
analysis
showing
pathogenic
Journal of Neurochemistry,
Journal Year:
2024,
Volume and Issue:
168(5), P. 910 - 954
Published: Jan. 6, 2024
Although
we
have
learned
much
about
how
the
brain
fuels
its
functions
over
last
decades,
there
remains
still
to
discover
in
an
organ
that
is
so
complex.
This
article
lays
out
major
gaps
our
knowledge
of
interrelationships
between
metabolism
and
function,
including
biochemical,
cellular,
subcellular
aspects
functional
imaging
adult
brain,
as
well
during
development,
aging,
disease.
The
focus
on
unknowns
substrates
associated
transporters,
roles
insulin
lipid
droplets,
emerging
role
microglia,
mysteries
cofactor
signaling
molecule
NAD
Neuropsychiatric Disease and Treatment,
Journal Year:
2021,
Volume and Issue:
Volume 17, P. 2229 - 2242
Published: July 1, 2021
Abstract:
Drug
resistant
epilepsy
(DRE)
is
defined
as
the
persistence
of
seizures
despite
at
least
two
syndrome-adapted
antiseizure
drugs
(ASD)
used
efficacious
daily
dose.
Despite
increasing
number
available
ASD,
about
a
third
patients
with
still
suffer
from
drug
resistance.
Several
factors
are
associated
risk
evolution
to
DRE
in
newly
diagnosed
epilepsy,
including
onset
infancy,
intellectual
disability,
symptomatic
and
abnormal
neurological
exam.
Pharmacological
management
often
consists
ASD
polytherapy.
However,
because
quality
life
driven
by
several
DRE,
tolerability
treatment,
should
try
optimize
efficacy
while
anticipating
risks
drug-related
adverse
events.
All
be
evaluated
once
tertiary
center,
especially
discuss
eligibility
for
non-pharmacological
therapies.
This
paramount
importance
focal
whom
surgery
can
result
long-term
seizure
freedom.
Vagus
nerve
stimulation,
deep
brain
stimulation
or
cortical
also
improve
control.
Lastly,
considering
effect
on
psychologic
status
social
integration,
comprehensive
care
adaptations
always
needed
order
patients'
life.
Keywords:
surgery,
drugs,
Epileptic Disorders,
Journal Year:
2022,
Volume and Issue:
24(5), P. 765 - 786
Published: July 13, 2022
Epilepsy
genetics
is
a
rapidly
developing
field,
in
which
novel
disease-associated
genes,
mechanisms
associated
with
epilepsy,
and
precision
medicine
approaches
are
continuously
being
identified.
In
the
past
decade,
advances
genomic
knowledge
analysis
platforms
have
begun
to
make
clinical
genetic
testing
accessible
for,
principle,
people
of
all
ages
epilepsy.
For
this
reason,
Genetics
Commission
International
League
Against
(ILAE)
presents
update
on
practice,
including
current
techniques,
indications,
yield
testing,
recommendations
for
pre-
post-test
counseling,
follow-up
after
completed.
We
acknowledge
that
resources
vary
across
different
settings
but
highlight
diagnostic
epilepsy
should
be
prioritized
when
likelihood
an
informative
finding
high.
Results
particular
identification
causative
variants,
likely
improve
individual
care.
emphasize
importance
individuals
as
we
enter
era
therapy.
Journal of Pain,
Journal Year:
2022,
Volume and Issue:
23(8), P. 1294 - 1317
Published: March 14, 2022
Increasing
evidence
suggests
that
migraine
may
be
the
result
of
an
impaired
brain
glucose
metabolism.
Several
studies
have
reported
mitochondrial
dysfunction,
metabolism
and
gray
matter
volume
reduction
in
specific
areas
migraineurs.
Furthermore,
peripheral
insulin
resistance,
a
condition
demonstrated
several
studies,
extend
to
brain,
leading
resistance.
This
has
been
proven
downregulate
receptors,
both
astrocytes
neurons,
triggering
uptake
glycogen
synthesis,
mainly
during
high
metabolic
demand.
scoping
review
examines
clinical,
epidemiologic
pathophysiologic
data
supporting
hypothesis
abnormalities
generate
mismatch
between
brain's
energy
reserve
expenditure,
attacks.
Moreover,
alteration
homeostasis
could
chronic
deficit
promoting
chronification.
Lastly,
resistance
link
with
its
comorbidities,
like
obesity,
depression,
cognitive
impairment
cerebrovascular
diseases.PerspectiveAlthough
additional
experimental
are
needed
support
this
novel
“neuroenergetic”
hypothesis,
migraineurs
unravel
pathophysiological
mechanisms
disease,
explaining
chronification
connecting
comorbidities.
Therefore,
elucidate
potential
approaches
for
treatment.
Molecules,
Journal Year:
2023,
Volume and Issue:
28(3), P. 1151 - 1151
Published: Jan. 24, 2023
Transmembrane
transport
of
small
organic
and
inorganic
molecules
is
one
the
cornerstones
cellular
metabolism.
Among
transmembrane
transporters,
solute
carrier
(SLC)
proteins
form
largest,
albeit
very
diverse,
superfamily
with
over
400
members.
It
was
recognized
early
on
that
xenobiotics
can
directly
interact
SLCs
this
interaction
fundamentally
determine
their
efficacy,
including
bioavailability
intertissue
distribution.
Apart
from
well-established
prodrug
strategy,
chemical
ligation
transporter
substrates
to
nanoparticles
various
compositions
has
recently
been
used
as
a
means
enhance
targeting
absorption.
In
review,
we
summarize
efforts
in
drug
design
exploiting
interactions
specific
SLC
transporters
optimize
therapeutic
effects.
Furthermore,
describe
current
future
challenges
well
new
directions
for
advanced
development
therapeutics
target
transporters.
Annual Review of Physiology,
Journal Year:
2024,
Volume and Issue:
86(1), P. 149 - 173
Published: Feb. 12, 2024
Glucose
is
the
universal
fuel
of
most
mammalian
cells,
and
it
largely
replenished
through
dietary
intake.
availability
to
tissues
paramount
for
maintenance
homeostatic
energetics
and,
hence,
supply
should
match
demand
by
consuming
organs.
In
its
journey
body,
glucose
encounters
cellular
barriers
transit
at
levels
absorbing
intestinal
epithelial
wall,
renal
epithelium
mediating
reabsorption,
tight
capillary
endothelia
(especially
in
brain).
transiting
these
must
escape
degradation
ensure
optimal
delivery
bloodstream
or
tissues.
The
liver,
which
stores
glycogen
generates
de
novo,
similarly
be
able
release
intact
circulation.
We
present
up-to-date
knowledge
on
handling
gut,
brain
endothelium,
kidney,
discuss
underlying
molecular
mechanisms
open
questions.
Diseases
associated
with
defects
homeostasis
are
also
briefly
addressed.
propose
that
problem
sparing
from
catabolism
favor
translocation
across
posed
epithelia
resolved
common
involving
transfer
endoplasmic
reticulum,
where
exits
cells
via
unconventional
mechanisms.
Journal of Cellular Physiology,
Journal Year:
2025,
Volume and Issue:
240(1)
Published: Jan. 1, 2025
Glucose
is
a
major
source
of
energy
for
the
brain.
At
blood-brain
barrier
(BBB),
glucose
uptake
facilitated
by
transporter
1
(GLUT1).
GLUT1
Deficiency
Syndrome
(GLUT1DS),
haploinsufficiency
affecting
SLC2A1,
reduces
brain
uptake.
A
lot
effort
has
been
made
to
characterize
GLUT1DS
at
BBB,
but
impact
on
astrocytes
remains
unclear.
In
this
study,
we
investigated
astrocyte
differentiation
and
function
in
vitro,
using
human
induced
pluripotent
stem
cells
(GLUT1DS-iPSCs)
differentiated
into
astrocyte-like
(iAstros).
expression
decreased
during
iPSCs
astrocytes,
with
neural
progenitor
showing
lowest
expression.
The
presence
truncated
did
not
compromise
iAstros,
as
these
could
express
several
key
markers
representative
lineage.
GLUT1DS-iAstros
failed
full-length
protein
levels
while
no
signs
impaired
GLUT4
However,
showed
lactate
production
compared
control-iAstros,
reduced
glycolysis,
mitochondrial
activity
well
ATP
deficit.
addition
production,
displayed
extracellular
glutamate
release.
As
previously
observed,
one
iAstros
clone
(C7)
most
severe
phenotype
from
all
groups.
Our
study
provides
an
insightful
view
contribution
astrocytes'
energetic
metabolism
raises
possible
astrocyte-neuron
metabolic
coupling.
future
direction
understand
better
how
impacts
neurons
within
their
