New Delhi, India
Leiden, The Netherlands
|Jeffrey Noebels, Chair
New York, USA
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.
- To organize the search for human epilepsy genes on a worldwide
scale through broad participation by members of ILAE chapters
- To prioritize complex epilepsies suitable for multicenter
collaborative gene mapping studies
- To make the results of genetic research on the epilepsies
readily accessible to clinicians
- To improve the public understanding of genetic factors in
- To work with related ILAE commissions to increase understanding
of newly identified genes and their role in basic mechanisms
of epileptogenesis and anti-epileptogenesis.
Achievements prior to
ILAE Genetics Workshop “Molecular Analysis of Complex Genetic
Epilepsies” convened in Bethesda, MD USA 30 Jan-1 February
, 2002 supported by NIH/NINDS, American Epilepsy Society, and 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.
Anderson E, Berkovic S, Dulac O, Gardiner M, Jain S, Laue Friis
M, Lindhout D, Noebels J, Ottman R, Scaramelli A, Serratosa J,
Steinlein O, Avanzini G, Bailey-Wilson J, Cardon L, Fischbach R,
Gwinn- Hardy K, Leppert M, Ott J, Lindblad-Toh K, Weiss K, Laue-Friis
M, ILAE Genetics Commission. ILAE genetics commission conference
report: molecular analysis of complex genetic epilepsies. Epilepsia.
ILAE Genetics Workshop held at the 4th
Asian and Oceanian Epilepsy Congress (AOEC), Nagano, Japan 11-14
September, 2002 (Organizers: S. Jain, S. Berkovic, T. Yamauchi).
ILAE Genetics Workshop held in China at the Joint Congress of
ICNA (9th International Child Neurology Congress) and AOCNA (7th
Asian and Oceanic Congress of Child Neurology), Beijing, 20-25
September, 2002 (Organizers: J. Noebels, S. Jain, X-R Wu).
Participation in symposia and workshops hosted by the Saudi Arabia
chapter and the Mediterranean Epilepsy Congress in Cairo, Egypt.
Commission Meeting at the European Epilepsy Congress, Madrid,
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.
July 31, 2003 to June 30, 2004
Major Genetics Commission activities centered on the Genetics
scientific program at the ILAE Congress in Lisbon.
The Genetics Commission organized and participated in one plenary
and four parallel symposia during the ILAE Congress.
Presidential lecture, Sunday, 12 October: Jeffrey Noebels, Exploring
Epilepsy with a Genetic Map; Satish Jain, Ethical Implications
of Genetic Studies.
Plenary program, Tuesday 14 October: Epilepsy in the Post Genomic
Era: Focus on the Genetics Of Inhibition. Chairperson: Jeff Noebels.
Michel Baulac: Clinical Phenotypes of Inherited GABA Receptor
Disorders; Istvan Mody: Molecular Mechanisms of Human GABA Receptor
Post-Plenary program, Tuesday, 14 October: Focus on the Development
of Inhibition. Chairperson: Jeff Noebels; Arnold Kriegstein: Development
of Cortical Inhibitory Interneurons; Y. Ben Ari: Function of GABA
in Developing Brain; H. Mohler: Strategies for Gene and Cell Therapy
Genetic Counseling in the Epilepsies. Chairperson: Eva Andermann,
Renzo Guerrini: The clinician’s dilemma; Eva Andermann: Principles
of genetic counseling; Nicolas Wood: Risk assessment for genetic
counseling in the epilepsies; Ruth Ottman: Genetic counseling in
idiopathic and symptomatic epilepsies; Beatrice Godard: Ethical
in genetic counseling and family studies of the
Genetics of Epilepsy in the Mediterranean Region. Chairpersons:
Jose Serratosa, Rima Nabout, Mohammad Mikati, Lebanon; Rima Nabout,
France; Jose Serratosa, Spain; Federico Zara, Italy.
Pharmacogenetics and Antiepileptic Drug Teratogenesis
Gaily, Finland; D. Battino, Italy; V. Hiilesmaa, Finland; T. Tomson,
Sweden; R. Finnell, USA.
- Post Genomic Approaches to Epilepsy
Genetics Commission Roundtable Discussion
In addition, Dr. Elving Anderson organized and the Commission
hosted a didactic meeting of primary care epileptologists to discuss
the collection of genetic family information and its use in counseling
in medical practice. This meeting was attended by 11 Commission
members and approximately 40 experts from many countries.
The Genetics Commission Business meeting was held at the ILAE
Congress in Lisbon.
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.
Interaction with ILAE Chapters
Thirty chapters (29 ILAE and one IBE) have designated representatives
to the Gene Search Program. The Commission has collected a needs
assessment by questionnaire. These contacts provide opportunities
for cooperation among neighboring chapters and partnerships between
developed and developing countries.
Interaction with OMIM, the authoritative website for all genetic
disease. Contacts have been made with the editor, Dr. McKusick,
who has enthusiastically welcomed the assistance of the Genetics
Commission in maintaining this website with current epilepsy gene
Regional Workshops on the Search for Epilepsy Genes. The commission
will play a critical role by supporting chapters with genetics
programs. As in previous years (AOEC, Nagano; Joint Congress of
ICNA/AOCNA, Beijing; ILAE Congress, Lisbon), didactic workshops
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 are being planned.
Workshops on Gene Function and Bioinformatics. The commission
will actively organize and support interactive basic research workgroups
on gene function relevant to epilepsy in collaboration with WONOEP
and the ILAE Neurobiology Commission.
Planning is underway for a parallel session on Genetics for the
ILAE Congress in Paris, 2005.