This document includes my summary (info slides + notes) of Lesson 8 of the Neurogenetics course taught by Rosa Rademakers. I have this for every lesson, outside of lesson 10, but I do have notes for the slides. You can also contact me for this at any time:))
Class 8: Neurogenetics Course Disease Focus
Epilepsy
Epilepsy
- Frequent
o Prevalence 4-10/1000
o 1/26 develops epilepsy during life
- Central symptom = epileptic attack, seizure
o Abnormal excitation somewhere in the brain and synchronization of
(sub)population of cortical neurons
§ Cortical disorder = disease of the cortical neurons
o Paroxysmal and uncontrolled
o Stereotypic seizures within people
§ Very diverse between people
o Recurrent
§ 5-10%single epileptic attack
§ Epilepsy=≥2spontaneous epileptic attacks in <24h
- ≠ 1 disease, but group of disorders
- Many diTerent
o Etiologies
o Presentations: generalized seizures, focal seizure…
o Prognoses between epilepsies can diTerent
§ Age dependent/Lifelong
§ Treatable/Therapy resistant (30%)
• A lot of people are resistant
§ Only epilepsy/Associated symptoms
§ Mental retardation, ataxia, dyskinesia...
- Examples; drop seizures, hypermotor seizures (start in the frontal lobar node), very
long seizures …
EEG
- Technical examination
- Measures electricity of the brain mostly of the superficial cortex -> so it has its
limitations
, - During seizure we can measure epileptic activity and zonetimes between seizures
we can detect interictal activity -> tells something about the location or onset of
the seizures
- It can tell us something about the type of epilepsy
o Focal: localized at a specific part of the brain
- Treatment: pure symptomatic, work on the ion channels
Challenges
- > 6 million people with epilepsy in Europe, > 50 million worldwide
- Estimated annual health care and societal cost of 16 billion euros
- >20 anti-seizure drugs=>seizure control in 2/3 of patients
o No treatments that prevent development of epilepsy
o 30% of patients treatment resistant
o 30% of patients adverse advents
o Symptomatic treatment until now -> 30% shows resistant and all the drugs
influence neuronal activity which lead to adverse eTects
- Need/Opportunity for studies on disease mechanisms and identification of novel
drug targets
=> Precision Medicine
Etiology of epilepsy – role of genetics
- How knowledge about epilepsy has changed over time.
- Epilepsy can have an infectious cause, tumors…
- Idiopathic = cause not know -> now: part because of lesions, but most of them
have a genetic cause (monogenetic and epilepsies with a more complex
architecture)
Genetic architecture of the epilepsies
- It is a spectrum: epilepsies that are purely genetic (these are rare), epilepsies that
are purely acquired but then you have also much in between
o Polygenetic epilepsy
o Not everyone with a stroke will have epilepsy -> genetic will play a role
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller evagoormans. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $7.91. You're not tied to anything after your purchase.
