Contact Us

Ilae Facebook Ilae Twitter

Epilepsy Genes

International League Against Epilepsy

Commission Report

Commission on Genetics
Date: January, 2003
Report By: Jeffrey Noebels, M.D., Ph.D., Chair

Commission Members

Elving Anderson, USA
Samuel Berkovic, Australia
Olivier Dulac, France
Mogens Friis, Denmark
Mark Gardiner, Great Britain
Shinichi Hirose, Japan
Satish Jain, India
Dick Lindhout , Netherlands
Iscia Lopes-Cendes, Brazil
Jeffrey Noebels, USA
Ruth Ottman, USA
Alejandro Scaramelli, Uruguay
Jose Serratosa, Spain
Ortrud Steinlein, Germany
Federico Zara, Italy


To advise the ILAE executive on ways to support the international search for genes that raise the risk of epilepsy, to encourage genetic research that can improve epilepsy diagnosis and therapy, and to educate clinicians, individuals with epilepsy, and their families about genetic advances in epilepsy.


  1. To organize the search for human epilepsy genes on a worldwide scale through broad participation by members of ILAE chapters.
  2. To prioritize complex epilepsies suitable for multicenter collaborative gene mapping studies.
  3. To make the results of genetic research on the epilepsies readily accessible to clinicians.
  4. To improve the public understanding of genetic factors in epilepsy.
  5. To work with related ILAE commissions to increase understanding of newly identified genes and their role in basic mechanisms of epileptogenesis and anti-epileptogenesis.

Summary of Activities for 2002


Workshop on Complex Genetic Epilepsies

In prior years our commission has emphasized the search for large families that have a number of relatives with epilepsy. This approach has led to the identification of more than 20 specific genes in which a mutation is linked to the pathogenesis of epilepsy. Many of the more common epilepsies, however, show an increased risk for epilepsy but at a level that does not fit a simple mode of inheritance. In the fall of 2000 a commission task force (Anderson, Berkovic, Gardiner, Leppert, Ottman, Noebels) initiated plans for a workshop dealing with this problem, and the Commission organized the 2 day workshop over the last year.

The workshop, “Molecular Analysis of Complex Genetic Epilepsies� was convened in Bethesda, MD on January 30-February 1, 2002. Major additional funding was provided by NIH/NINDS, with additional support from the American Epilepsy Society and from the ILAE Commission on the Search for Epilepsy Genes.

Forty clinicians and scientists from a dozen countries discussed epilepsy in terms of its classification, epidemiology, evidence for genetic etiology, neurobiology, phenotype/genotype correlations, and the use of linkage and association studies to identify genes that contribute to the susceptibility for epilepsy. The ultimate goal is to understand the underlying pathogenetic mechanisms and thus help to develop genomics-based means of intervention and therapy.

In a final session the participants discussed strategies for developing large-scale collaborative efforts to identify families, collect DNA samples, and analyze the data using molecular and statistical methods. The priority setting for specific phenotypes, as well as the timing and coordination of the efforts that would be required for such a large-scale research undertaking have not been fully established. The commission will continue to discuss the advantages and obstacles to a world wide collaborative project during the coming year.

A full length report of this workshop appeared in Epilepsia (October, 2002).

Commission Meeting at the European Epilepsy Congress in Madrid, October 2002.

The Commission met again at the European Epilepsy Congress in Madrid. Proposals for several project were reviewed, including:

  1. Formation of an International Consortium on Idiopathic Inherited Epilepsies
  2. Implementation of the Genetics Commission Website, featuring descriptions of defined clinical genetic epilepsy syndromes, as well as lists of genetic epilepsy specialists by country
  3. A classification scheme of genetic epilepsies to be submitted to the ILAE Classification Committee for further consideration, and
  4. Formulation of proposal for a Genetics Program at the Tunis meeting, tentatively entitled “Genetic Research in Mediterranean Countries�.

There is a continuing effort to implement specific projects previously represented on the Commission, including malformations, pregnancy, teratogenetics, and genetic counseling. This may involve a recommendation to the Executive Committee in the coming year for creation of a new commission or subcommissions.

Future Activities for 2003

Interaction with other ILAE Commissions

The Genetics Commission is working closely with the Commission on Classification of the Epilepsies to ensure an authoritative integration of specific categories of inherited epilepsy into the classification scheme. This work will be published on the website.

Interaction with ILAE Chapters

Thirty chapters (29 ILAE and one IBE) have designated representatives to the Gene Search Program. These responses can provide opportunities for cooperation among neighboring chapters and also partnerships between developed and developing countries. The participants will be listed on the new website in the coming year.

Regional Workshops on the Search for Epilepsy Genes

In many countries there are families with new genes for epilepsy waiting to be identified. ILAE chapters can play a critical role by encouraging a nation-wide perspective for this search process. Each chapter that becomes involved can benefit from the experience in neighboring countries, and here the broad ILAE regional pattern provides a further advantage. In the year 2002, commission members made themselves available for didactic sessions organized at two regional meetings, including the AOEC (4th Asian and Oceanian Epilepsy Congress), Nagano, Sept. 11-14 (Organizers: S. Jain, S. Berkovic, T.Yamauchi), and the.Joint Congress of ICNA (9th International Child Neurology Congress) and AOCNA (7th Asian and Oceanic Congress of Child Neurology), Beijing, Sept. 20-25, 2002 (Organizers: J. Noebels, S. Jain, X-R Wu). These workshops are intended for chapter representatives and others who wish to take an active role in finding such families with epilepsy that would be informative for gene mapping.

Subcommission Activities

Gene Search

In anticipation of the ILAE Congress to be held in Tunisia in 2003, a task force will develop a workshop and specific participation of chapters in Northern Africa in the Gene Search mapping project. The general topic will be the subject of a symposium organized by the Genetics Commission for the ILAE Congress in Tunis entitled “Genetic Epilepsy Research in Mediterranean Countries�.


A questionnaire on the effectiveness of various educational modalities was circulated to the chapters, and the responses analyzed. A short report summarizing these responses and other major issues in patient education about epilepsy genetics will be prepared for the Website. This topic will be considered further in a symposium at the ILAE Congress in Tunis sponsored by the Genetics Commission and organized by E. Andermann that will focus on genetic counseling in epilepsy.

Phenotype Characterization

This group met following the NIH workshop in February 2002 and is preparing a report outlining the clinical criteria that would be employed as the collaborative project documents families in preparation for DNA analysis. Ad hoc members of this group were: Elving Anderson, Olivier Dulac, Mark Gardiner Allen Hauser, Mark Leppert, Ruth Ottman, and Thomas Sander.

Clinical Applications

The objective of this subcommission is to describe the utility of what we currently know about epilepsy genes and to develop guidelines on how to correctly apply available knowledge. A report describing diagnostic, prognostic and therapeutic implications has been generated by the working group (J. Serratosa, S. Berkovic, M. Gardiner, D. Lindhout, A. Lehesjoki, and E. Anderson) and will be available on the commission website.

Gene Function:

This subcommission will collaborate with the Neurobiology Commission in supporting relevant speakers for the forthcoming 2003 WONOEP meeting to be held in Tunisia. In addition, a scientific plenary symposium at the 25th ILAE Congress has been organized on the topic of “Epilepsy Research in the Postgenomic Era� (Organizers: J. Noebels, J. Chelly). This topic will feature new genetic discoveries leading to inherited defects in brain inhibitory mechanisms and epilepsy.


A working group has been established to develop an Internet website for international education on epilepsy genes. The major focus will be information for clinicians, listing epilepsy genes discovered to date, and lists of genetic specialists by country. Links to other sources of information will be provided, including the diagnostic phenotypes, appropriate uses of genetic testing, and genetic counseling information. The editorial board for this project includes Jeff Noebels, Sam Berkovic, Jose Serratosa, and Elving Anderson. The new website will be hosted by the ILAE, and should be established in 2003. A template has been designed for the database, and editors have been assigned genes for annotation and publication on the web. The editorial board of the Commission will be responsible for maintaining accuracy and up to date information.

Other Initiatives

Based on discussions at the Commission meeting, work groups are being formed to maximize the effective expertise of the Commission. A high priority will be assigned to increasing communication both within the Commission membership, as well as to the broader ILAE membership through the Website project. With the increasing awareness and interest in hereditary aspects of epilepsy in many different societies, the Commission will seek to identify new initiatives to promote international education and understanding of genes, as well as the ethics and social issues of genetic research among professionals and families affected by epilepsy. There is a continuing effort to identify and implement specific projects previously represented on the Commission, including malformations, pregnancy, teratogenetics, and genetic counseling. This may involve a recommendation to the Executive Committee in the coming year for creation of a new commission or subcommissions. Increased contacts with WHO and IBE are planned, along with participation in the International Congress on Human Genetics.

Annual Report 2002 Table of Contents


Home | Contact Us | Privacy & Security | Login | Sitemap
Creative Commons License
Text on this website is available under a
Creative Commons Attribution-ShareAlike 4.0 International License
except all videos and images, which remain copyrighted by the International League Against Epilepsy.