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Printable Handouts
Navigable Slide Index
- Introduction
- Learning objectives
- Epilepsy (1)
- Epilepsy (2)
- Antiepileptic drugs (AEDs)
- Why genetics? (1)
- Why genetics? (2)
- Why genetics? (3)
- Vaccination encephalopathy
- Dravet syndrome (1)
- Dravet syndrome (2)
- Genetics helps to get closer to the biology
- Why genetics is important?
- Many tools can be used
- The cause
- Chromosomal anomalies on karyotyping
- Candidate genes
- Channelopathies
- Epileptic encephalopathies
- Array CGH (1)
- Array CGH (2)
- Array CGH (3)
- ‘Common’ types of epilepsy
- Genome-wide association study (1)
- Genome-wide association study (2)
- Genome-wide association study (3)
- GWAS in mTLE+HS+FS
- Whole exome analysis (1)
- Example of exome sequencing (1)
- Example of exome sequencing (2)
- Cause by exome sequencing
- Whole exome analysis (2)
- Whole exome analysis (3)
- miRNA analysis
- Treatment response
- Pharmacogenetics
- Carbamazepine hypersensitivity (1)
- Carbamazepine hypersensitivity (2)
- Carbamazepine hypersensitivity in Europeans (1)
- Carbamazepine hypersensitivity in Europeans (2)
- Phenytoin pharmacokinetics
- Genetics helps to get closer to better care
- Rational treatment? (1)
- Rational treatment? (2)
- Phenotype
- Phenotype, genotype and more
- Co-morbidity and pharmacogenetics
- Microdeletions and treatment?
- PGX from exome or other sequencing?
- Tailored therapy?
- Selecting drugs by genetic cause?
- Drug treatment
- www.EpiPGX.eu – a European consortium
- Genetics – promise really materialising (1)
- Genetics – promise really materialising (2)
- Genetics is a tool (1)
- Genetics is a tool (2)
- Position (1)
- Position (2)
- Conclusions
Topics Covered
- Epilepsy and genetics
- Significant contribution of genetics to many epilepsies
- Many types of variation, and methods to detect them
- Importance of correct interpretation
- Will likely revolutionise understanding
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Sisodiya, S. (2014, August 5). Genetics of epilepsy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/HPLL6756.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Sanjay Sisodiya has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Neurology
Transcript
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0:00
My name is Sanjay Sisodiya.
I am Professor of Neurology at
the UCL Institute of Neurology.
This presentation is on
the genetics of epilepsy.
This is a very rapidly moving area
where discoveries are being made
very frequently, allowing
us to better understand
the basis of many more
epilepsies than we
previously were able to understand.
0:24
The objectives of this presentation.
To obtain a better understanding of
the place of genetics in epilepsy--
why is genetics
important to epilepsy?
How can genetics be studied?
What techniques are available?
And what kind of
findings are emerging?
Genetics, in summary, is
reordering the epilepsies,
allowing us a better understanding
of the different types
of conditions that are present.
Genetics can be a
useful clinical tool,
and genetics can help
improve understanding
and management in epilepsy.
And these are the key
messages of this presentation.
1:00
Epilepsy is a tendency
to recurrent seizures.
Globally, something like 50
million people have epilepsy.
And of these, one in
three people have epilepsy
with seizures that are
resistant to treatment.
This is a very pervasive
and pernicious condition,
affecting many different
aspects of an individual's life,
creating a burden that affects all
aspects of that individual's life,
including, for example,
increasing morbidity
with a high risk of
premature mortality.
In the UK alone, epilepsy directly
leads to death in about 1000 people
a year.
And as a result of all of
these aspects of epilepsy,
the societal costs are high, with
more than 15 billion euros per year
spent on epilepsy across Europe
with the antiepileptic drug bill
alone, in the UK, amounting to more
than 140 million pounds a year.
Beyond this, there is
a huge treatment gap.
Most people with epilepsy in the
world do not get drugs at all.
So there are significant
needs in epilepsy.
And genetics, hopefully,
will meet some of these.