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My name is Pasquale
Striano and I am
a pediatric neurologist at
the University of Genoa,
Gaslini Children's Hospital.
Over the years, my research
and clinical practice
have focused extensively on
the genetic underpinnings of
pediatric epilepsies and how
these insights can guide
targeted treatment strategies.
Now, I will take you on
a journey from genetic
testing to the application of
these findings in
personalized disease management
for pediatric epilepsies.
This field has evolved rapidly
and our understanding of
this condition has grown
significantly in the last
few decades, allowing us to
offer more effective
and tailored treatment
to our patients.
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This is my disclosure.
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Historically, the causes
of epilepsy were primarily
classified based on observable
factors such as trauma,
vascular anomalies,
infection, or congenital
malformations.
Early studies by Hauser
and Kurland in 1975 laid
the groundwork for
understanding epilepsy as
a multifaceted condition
with various etiologies.
This traditional
approach focused on
the structural and acquired
causes of epilepsy.
However, as our understanding of
neuroscience and
genetics as advanced
we have seen a significant
shift in perspective,
particularly the groundbreaking
work by Thomas and
Samuel which provided
substantial evidence
that many epilepsies have
a genetic origin,
which is fundamentally
alters how we diagnose and
manage these conditions.
Today, we recognize that a
significant proportion of
epilepsy cases especially those
with early onset or those
resistant to the treatment
have a genetic component and
this paradigm shift
has paved the way for
the integration of
genetic testing
into routine clinical practice.
