Progressive myoclonus epilepsies – on the way to precision medicine?

author: Anna-Elina Lehesjoki, Neuroscience Center (NC), University of Helsinki
published: Sept. 22, 2017,   recorded: September 2017,   views: 881


Related Open Educational Resources

Related content

Report a problem or upload files

If you have found a problem with this lecture or would like to send us extra material, articles, exercises, etc., please use our ticket system to describe your request and upload the data.
Enter your e-mail into the 'Cc' field, and we will keep you updated with your request's status.
Lecture popularity: You need to login to cast your vote.


During the past two decades, significant progress has been made in understanding the molecular genetic basis of human genetic diseases, the current next-generation sequencing technologies allowing gene identification even in single families. The future challenge is to translate this knowledge into the benefit of patients by producing novel methods for diagnostics, prevention and treatment. Progressive myoclonus epilepsies (PME) are rare, inherited, and usually childhood-onset neurodegenerative diseases whose core symptoms are epileptic seizures and debilitating involuntary muscle twitching (myoclonus). After the identification of mutations in the cystatin B encoding gene as the underlying cause for the most common single form of PME, Unverricht-Lundborg disease in 1996, over 25 genes associated with PME have been identified. In this talk, we will give on overview on the current molecular genetic understanding of PMEs culminating in our recent identification of a recurrent de novo mutation in the KCNC1 gene as a major cause of PME. We will review work on cystatin B aiming at understanding its physiological function and disease mechanisms in Unverricht-Lundborg disease. We will shortly discuss the possibly unifying mechanism underlying PME and prospects for precision medicine approaches.

Link this page

Would you like to put a link to this lecture on your homepage?
Go ahead! Copy the HTML snippet !

Reviews and comments:

Comment1 Kate, November 15, 2021 at 4:38 p.m.:

Diagnostic examination is the most important stage of medical care. Correct diagnosis increases the timeliness and effectiveness of treatment, minimizes the risk of complications, and makes the prognosis more favorable. Using modern medical technologies like these https://www.medical-hospital-equipmen... , you make the treatment process more effective

Write your own review or comment:

make sure you have javascript enabled or clear this field: