Genetics

Commission Members

Aims

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.

Objectives

• 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 epilepsy
• 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 July 2003

2002
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. 2002 Oct;43(10):1262-7.

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, October 2002

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.

Commission Activities
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 Mutations.

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 of Inhibition.

Parallel Sessions

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 implications in genetic counseling and family studies of the epilepsies.

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.

Platform Sessions

• Post Genomic Approaches to Epilepsy
• Channelopathies

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.

Upcoming Activities

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 information.

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.

Jeffrey Noebels
Chair