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Commission on Search for Epilepsy Genes

Chair and Contact Information

Jeffrey Noebels, M.D., Ph. D.
Baylor College of Medicine
Department of Neurology
1 Baylor Plaza
Houston, TX 77030/USA
Phone: +1 713 798 5860
Fax: +1 713 798 3853

Chair: V. Elving Anderson

To advise the ILAE executive on ways to encourage and support the search for genes that raise the risk of epilepsy, and to make the results accessible to clinicians, and to individuals and families.

To carry out a search for epilepsy genes on a worldwide scale through broad participation by ILAE chapters.
To identify effective methods for improving the public understanding of genetic factors in epilepsy and encourage their wider use.
To develop guidelines for the clinical assessment of seizures and epilepsies in families as a preparation for gene mapping studies.
To make the results of genetic research about the epilepsies readily accessible to clinicians.
To review studies of newly identified genes and their roles in the basic molecular mechanisms of epileptogenesis.

Gene Search
Taskforce on webpage
Phenotype Classification
Gene Function
Clinical Applications
Twin Studies

The commission held one meeting, during the 1999 Congress in Prague.

Reports Completed
Clinical Requirements prior to Molecular Genetic Study in the Epilepsies
Gene Searching in the Epilepsies: Clinical Applications

Interaction with other Commissions
We cooperated with the Neurobiology Commission in planning and carrying out the symposium on Inherited Ion Channel Disorders and Epilepsy at the Prague Congress

Summary of Activities for 1999-2000
In July 1999 a pilot gene search study was initiated in New Zealand, which has an active IBE chapters but no ILAE chapter. In collaboration with Michael Hills (who is Secretary-General of the IBE and lives in NZ) this study will test the proposal that the IBE network can identify and document informative families for gene mapping. This strategy might be extended in the future to collaboration between the ILAE and the IBE in other countries.

The joint symposium on "Inherited Channel Disorders" was the first time that the information about newly identified genes for epilepsy syndromes could be integrated with neurobiological studies that had been going on for some time on the same gene ion channel systems. This is an example of the transition from structural genomics to functional genomics.

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.

A task force has been established to develop an Internet webpage for international education on epilepsy genes. The major focus will be information for clinicians about epilepsy genes discovered to date, including a brief clinical synopsis, the diagnostic phenotype(s), appropriate uses of genetic testing, and genetic counseling information. An EpilepsyGeneTest website has been registered; this project will be coordinated with the American Epilepsy Society and the Epilepsy Foundation of America.

Plans for 2000-2001

The task force on the epilepsy gene webpage will have had its first meeting March 31, 2000 in Bethesda, MD to agree on a format for the material and to assign syndromes to specific laboratories. A subsequent meeting will take place in Florence in October to review the material prior to placing the information on line. A marketing plan will be developed to make international clinicians (epileptologists, pediatricians, genetic counselors) aware of the site.

Workshops on the Gene Search process are being planned for chapter representatives preceding each of the congresses this fall: Santiago in September, Florence in October, and New Delhi in November. In a sense, these will become regional meetings of an enlarged Gene Search commission.

A planning meeting will be convened to plan a workshop on complex genetic epilepsies. Progress to date has been slow on the genetics of JME and other idiopathic generalized epilepsies. A workshop is urgently needed to identify other strategic populations (such as isolates) and to develop appropriate collaborations to combine data pools for efficient statistical analysis.

Subcommission Activities

Gene Search
In October, Olivier Dulac and Elving Anderson participated in a symposium and workshop hosted by the Saudi chapter, with excellent papers from about ten Arab nations. Olivier Dulac participated in the Mediterranean Congress in Cairo in November and will return later to help with collaborative planning for gene mapping projects.

Chapter responses to the Gene Search program show a relative deficiency in Eastern Europe and sub-Saharan Africa. We will encourage participation in the Florence workshop by chapters from those areas.

The initial editorial board for the taskforce on the epilepsy gene webpage includes Jeff Noebels (chair), Sam Berkovic, Jose Serratosa, and Elving Anderson. Other members will be added for the meeting in Florence.

Education: Ruth Ottman (chair)
A questionnaire on the effectiveness of various educational modalities was circulated to the chapters, and the responses have been analyzed. A short report summarizing these responses and other major issues in patient education about epilepsy genetics is in preparation. This topic will be considered further in the precongress workshops this fall.

Phenotype Characterization: Olivier Dulac (chair)
This report presents a short, but comprehensive, outline of the important contributions by clinicians as they document families in preparation for DNA analysis.

Gene Function: Jeff Noebels (chair)
This subcommission will collaborate with the Neurobiology Commission in planning a joint symposium for the 2001 Epilepsy Congress in Buenos Aires.

Clinical Applications: Jose Serratosa (chair)
This report reviews the application of gene testing for diagnosis and for genetic counseling. Regular up-dates will be required as new epilepsy genes are identified.

Twin Studies: Mogens Friis (chair)
The Mid-Atlantic Twin Registry includes well-documented twins with epilepsy from Virginia and North Carolina (in the US), Norway and Denmark. DNA samples are being collected for later analysis. The Swedish Twin Registry has been invited to join. In the Australian Twin Registry the focus is on acquired factors in epilepsy and epilepsies with complex inheritance.

March 15, 2000

Clinical Requirements Prior To Molecular Genetic Study

Clinical Applications

Annual Report 2000 Table of Contents






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