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.
Taskforce on webpage
The commission held one meeting, during the 1999 Congress in
Clinical Requirements prior to Molecular Genetic Study in the
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
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.
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
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
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
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
Annual Report 2000 Table of Contents