Genetics of Epilepsy V

Genetics has taught us a lot in recent years about the origin and the mechanisms that can lead to epileptic seizures. Three main fields are important when we want to learn about the genetic epilepsies:
(i) the clinical genetics, i.e. the epileptic phenotypes that are associated with specific mutations,
(ii) the genetic defects of the different syndromes themselves, and
(iii) the pathophysiological mechanisms by which these defects can lead to epileptic seizures.
This course gives the participants the opportunity to study all three aspects all the way from basic science to clinical practice.

We have divided the course in 13 sections which deal in the first basic and introductory part with epidemiology, the principles of classical, i.e. Mendelian, and molecular genetics, and finally with the structure and function of ion channels, since most of the genetic defects identified so far affect different types of ionic channels. In the second part, the genetic epilepsies are summarized in different groups and the specific genetic defects, the associated syndromes and their pathophysiology are discussed in detail. In addition, we have dedicated a few chapters to miscellaneous topics which in our opinion are important to deal with patients presenting with genetic epilepsy syndromes, like a separate chapter on ‘phenotyping’, or that affect upcoming and interesting new research areas, such as ‘pharmacogenetics’. We hope that by this approach we will meet the interests and expectations of both researchers and clinicians who participate in this e-learning course, which we perform now in the fifth year.

All chapters are written by clinical specialists or basic scientists whose own research deals with the respective topics. The texts are updated every year so that you will learn about the most recent advances of genetic research.

Learning objectives

The definite objectives of this course are to learn (i) the basic principles of epidemiology, molecular and clinical genetics, and ion channel gating, (ii) the specific clinical aspects, genetic defects and possible pathophysiological consequences of the main groups of hereditary epilepsies, and (iii) about pharmacogenetics. The participants are asked to reproduce the incorporated knowledge in specific questions and in particular in practical tasks for each topic. The online character with discussion of the results by both the participants among themselves and the tutors contributes to a very active acquisition of knowledge.

Course format

An introductory meeting as onsite start of all courses will take place during the 8th European Congress on Epileptology in Berlin in September 2008, inviting as many course participants as possible together with the course directors. This meeting will give an overview on the available courses and on practical aspects of participation in the course, including an introduction to the e-learning platform of the Virtual Epilepsy Academy. Attendance of this meeting is not mandatory for course participation. 

The course itself is divided into 14 units of 2 weeks each, beginning with an introduction to the VIREPA e-learning platform, followed by 13 learning units. The learning material (textbooks and references) is available for download. The first week is usually reserved for reading, asking and discussing questions directly related to the respective topic in the discussion forum of the e-learning platform. The participants are asked to discuss heavily among the group, and the tutors will comment questions and answers afterwards. In addition, the tutors may stimulate this phase by asking a few questions via the online medium, in particular when there are not enough questions from the participants. In the second week, a so-called CSCL (Computer Supported Collaborative Learning) -task has to be solved and discussed within the group. During this phase, the acquired knowledge has to be used to solve a concrete research or clinical problem or both.

The participants are expected to spend about 8 hours (~4 hours/week) for individual study of the learning material, for reading/writing contributions in the forum and to complete the tasks.

Entry criteria

• 3 years of training in neurology, neuropediatrics, clinical neurophysiology, psychiatry or neurosurgery, or combinations of these;
  
  
• Minimum of 4 months of EEG training.
  

Successful participation in this course is awarded with credit points for the elective "Genetics of Epilepsy" of the European Certification in Epileptology for Medical Doctors. For successful participation, participants have to complete the tasks during the e-learning phase, including a series of general questions and diagnostic tasks which will be presented at the end of the course.

Applications should contain

• a signed confirmation of the neurology department on the 3 years of neurological or comparable training
  
  
• a signed confirmation on the 4 months of EEG training
  
  
• CV
  
  
• list of publications.

Personal Computer, Internet access
Operating system: Windows 98 / 2000 / NT / XP, Apple Mac OS X; Linux/Unix
Internet access: Modem, ISDN or DSL (recommended)
Browser: Internet Explorer 5.5 (and higher); Mozilla Firefox; Safari; Opera, Konqueror
Pdf- Reader (e.g. Adobe Acrobat)

Course Director:  Prof. Dr. Holger Lerche

For application and further information, please contact:

Epilepsy Academy Office, Maraweg 21, D – 33617 Bielefeld, Germany

Tel.: +49 521 144 – 4310
Fax: +49 521 144 – 4311

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