Disorders A - Z:   A    B   C    D    E    F    G    H    I    J    K    L    M    N    O    P    Q    R    S    T    U    V    W    X    Y    Z

Skip secondary menu

NINDS Workshop on Genetics of Human Epilepsy


Opportunities in the Genetics Of Human Epilepsy:

Outcome of an NIH Workshop, San Diego 
Aug 30-Sept 1, 2010[1]

This was a timely meeting with rapidly maturing high throughput genomic technologies[1] converging with recent genetic and functional discoveries that have revealed complexities of the genetics of epilepsies.   Understanding these complexities is essential for translating genomics to routine diagnosis, individualized optimal treatments and development of truly novel therapeutic agents.

The Introductory session highlighted the current and emerging high throughput technologies, the benefits of a large collaborative group in genomic discovery, efforts of the ILAE Consortium on Complex Epilepsies, challenges in functional validation once variants are discovered and potential opportunities from the NIH for a large consortium.

The subsequent five sessions dealt in detail with Genome Wide Association Studies (GWAS), deep sequencing in monogenic epilepsies, deep sequencing and copy number variation analyses in complex epilepsies, functional validation strategies with anticipated rapid genomic advances and pragmatic aspects of building a large consortium.

GWAS in Epilepsies

Although epilepsy is one of the most heritable neurological disorders, there have been no positive Genome Wide Association studies (GWAS) and just one negative study focused on partial epilepsies.  As part of the ILAE Consortium on Genetics of Complex Epilepsies, a survey was performed of all known international groups with genotyped data and samples available for genotying.  It was reported that there are approximately 4,050 genotyped samples of Genetic Generalized Epilepsies (the majority from the EPICURE and EPIGEN consortia) a further 4,400 samples not yet genotyped. For focal epilepsy, there are approximately 5,300 samples genotyped (EPIGEN, Liverpool, Philadelphia cohorts) and another 4,400 samples not yet genotyped. 

Presentations from the EPIGEN cohort highlighted the lack of evidence for common variants in focal epilepsy, while preliminary results from the EPICURE cohort involving Genetic Generalized Epilepsies and the Philadelphia cohort on all samples showed some preliminary encouraging results. 

Although high throughput sequencing is now the “cutting edge” technology, there remains value in performing GWAS to determine if common variants are relevant to epilepsies and to point to regions of special interest for sequencing.  It was resolved that larger studies are indicated, that international collaboration was obviously needed and that the GWAS studies should be done quickly.

Recommendation:  An essential and urgent experiment is a meta-analysis of available data.  There was also enthusiasm for attempts to genotype a further 4,000 Genetic Generalized Epilepsies cases, but less so for focal cases.  This should be achieved in the next 12-18 months. 

Deep sequencing in Monogenic Epilepsies

Epilepsies with a Mendelian inheritance pattern likely have a monogenic or oligogenic origin and represent ideal models to provide insights in the biological pathways involved in the development of seizures, epilepsy syndromes and epileptogenesis.

In the study of Mendelian disorders at large, the new genomic technologies have matured to an extent that they are already extensively used in a few genome centers where DNA from thousands of patients and controls are now analyzed on a yearly basis. Recent studies highlight how the use of these technologies may lead to rapid novel gene detection for both autosomal dominant and recessive epilepsy syndromes. The advent of these technologies not only increases productivity enormously, leading to faster detection of novel genes, but more interestingly opens opportunities to identify molecular defects that escaped detection with the currently available strategies. Genomic rearrangements such as copy number variations, variations in regulatory sequences or deep intronic mutations are now within our reach.

The rare, genetically and clinically heterogeneous, severe early onset epileptic encephalopathies are often caused by de novo mutations in dominant genes. These individually rare, but as a group common disorders, can now be tackled by the novel technologies. Hypotheses about crucial aspects of monogenic epilepsy syndromes can now be tested. These include: 1) “second hits” explaining the occurrence of unusually severely affected individuals in pedigrees; 2) the role of genetic modifiers in the common and sometimes striking intra- and interfamilial heterogeneity in both seizure types and severity; 3) the presence of genetic “protective” variants (e.g. resulting in reduced penetrance); 4) the presence of additive factors that lead to severe phenotypes and pharmaco-resistance. Screening of large cohorts of patients with monogenic disorders will lead to catalogues of alleles suitable for genotype-phenotype correlations aiding the selection of variants for in vitro and in vivo functional studies.

Recommendation:  The study of monogenic epilepsies is important in its own right since it provides opportunities for more precise and earlier diagnosis, genetic counseling and identification of therapy targets. In addition, these disorders may have a link with the more common epilepsies since hypomorphic alleles in genes identified in monogenic forms may act in combination as risk factors, pointing to shared underlying disease mechanisms.

Deep sequencing and Copy Number Variation in Complex Epilepsies

The session on rare variants first reviewed what is known about rare variants that contribute to both familial and sporadic forms of epilepsy.   Two general conclusions clearly emerged. First, traditional linkage studies have securely identified a modest number of genes that harbor mutations that result in clear familial patterns of epilepsy.   It was emphasized that in some cases mutations in the same gene can result in different clinical manifestations. Second, large-scale studies of structural variation have shown that a small proportion of sporadic epilepsy cases are likely explained by microdeletions and microduplications, with structural variation at 15q11, 15q13 and 16p13 making the strongest numerical contribution of the structural variants identified to date.  

The session then addressed the question of how best to find the other mutations that are responsible for the complex inheritance of common epilepsies - both for familial forms that could not be found through traditional linkage and also variants that contribute to sporadic cases.  An argument was made that these variants will be best found through a combination of whole genome and whole exome sequencing, applied in the first instance to both familial cases and to well characterized sporadic cases.  While the details about how best to implement such a program remain to be resolved, a strong case was made that it is now feasible to embark on such an endeavor.

Recommendation: A range of different approaches should be pursued in parallel, including sequencing in different kinds of multiplex families and in well-defined sporadic cases, perhaps with an emphasis on the Genetic Generalized Epilepsies in the case of sporadics.  It was also emphasized that all sequencing should be concentrated wherever possible in patients that are available for follow-up study.

A collaborative effort, in the form of a submitted, but not yet funded project on rare monogenic and complex epilepsies is taking shape in Europe.  Building a broad consortium for the study of epilepsies with joint European and NIH funding is particularly attractive if administratively possible.

Strategies for medium-high throughput functional studies to prioritize targets:

Following the detection of genetic variation by large scale studies, functional analyses will form a critical component of validation and provide the opportunity to elucidate the pathophysiological mechanisms underlying the common epilepsies. Several challenges of such studies were envisaged and discussed during the meeting. Detection and characterization of small changes in channel function in the context of susceptibility alleles will be difficult. This can be overcome by employing medium-to-high throughput assays that can provide sufficient statistical power to detect subtle changes in protein function. To this end a validated medium throughput electrophysiological assay was described that could detect small changes in function of HCN2 variants associated with epilepsy. This and other such assays will enable development of large data sets that will need to be interpreted in a meaningful way.  Concepts of how to deal with data sets from high throughput assays were proposed that included the use of in silico models. Further challenges include the lack of consistency in measured functional impact of the mutation in different expression systems.  

Scn1a mouse models of GEFS+ and Dravet syndrome were discussed in detail. These disease models provide an example of a successful paradigm where genetic knowledge of an epilepsy syndrome has translated into a clearer understanding of disease mechanism. Studies in these mice have also determined gene by gene interactions, (protective impact of a Scn8a mutation) and identified environmental influences on seizure susceptibility. These data highlight an important process which is likely to impact on clinical outcome.

Recommendation: Selection of variants for functional studies should be based on both genetic/statistic and physiological evidence. A feasible and obvious starting point is the use of medium to high throughput automated electrophysiological assays in heterologous expression systems. These are best suited to investigate variants in ion channel genes that are known to be important regulators of neuronal excitability. Strategies for screening non-ion channel/transporter genes include fluorescence-based methods for example to study surface expression and cellular transport and will need to be developed in specific cases. Follow-up steps would involve deeper physiological studies in neuronal cultures and animal models developed on the basis of these screening results.

Building a Large Consortium

There is already considerable experience in the creation and implementation of large consortia designed to identify, phenotype and study the genome of individuals with specific forms of epilepsy.  These efforts clearly show that there are many epileptologists throughout the world who have the interest and ability to find patients for genetic studies, and multi-center clinical networks can operate across national and regional boundaries.  Furthermore, platforms already exist for collecting phenotype data into centralized, secure and mineable data warehouses, and for the generation and analysis of whole genome sequences. 

However, there is currently no uniformity in standards and methods for phenotyping patients across consortia, and little is known about the reliability and validity of many of the phenotype datasets that currently exist, as well as the quality of banked DNA.  The precise “depth” of phenotyping required for future genetic studies is uncertain, but there appears to be a consensus that detailed phenotypes will be critical for deciphering the results of genome sequencing. 

Recommendation:  Uniform phenotyping is a critical issue for a consortium and this should be addressed by investing effort up front to collect as much phenotype data as possible, and to ensure that patients can be reassessed based on genomic findings.  Regarding consortium administration, the epilepsy community can rely primarily on the precedent set by other research groups to deal with more generic consortia issues, such as the establishment of charters, and rules for authorship and ownership of data.

 

Overall Workshop Recommendation

Vision

To understand the genetic variation underlying the epilepsies and the genetic determinants of drug response and adverse outcomes. 

This will have practical application for individual cases to understand etiology and determine best treatment, and it will be the substrate for developing novel treatment targets.

Bold Project

Through an international, collaborative effort we will perform whole exome/genome sequencing of several thousand well-phenotyped epilepsy samples.  This will focus on the common epilepsies known to have genetic determinants, but also include rarer Mendelian epilepsies. 

We will also perform parallel high throughput functional studies to determine  causation of these variants and selective, highly intensive, multi-scale physiological investigation to understand mechanisms of key variants.



[1] The new technologies include large scale deep sequencing (synonyms Next Generation Sequencing, Massive Parallel Sequencing [MPS]) and genome wide copy number variation detection.

 * Prepared by the Organizing Committee and Session Chairs:  S Berkovic, P De Jonghe, B Fureman, D Goldstein, A-E Lehesjoki, H Lerche, D Lowenstein, C Reid, R Stewart.

 

Genetics of Human Epilepsies Final Agenda
(8/24/2010)

 
 Monday, August 30, 2010
5:00 PM  -  7:00 PM Registration
6:00 PM  -  6:30 PM Dinner and Session I
Session Registration Required (Dinner Fee)
6:30 PM  -  6:45 PM Welcome & Meeting Objectives:
(R. Stewart & K. Gwinn)
6:45 PM  -  6:55 PM ILAE Collaboration update
(S. Berkovic)
6:55 PM  -  7:05 PM Comments from major groups
7:05 PM  -  7:20 PM Lessons learned from successful collaborations
(A. Palotie)
7:20 PM  -  7:35 PM Discovery genetics: the next three years
(D Wheeler )
7:35 PM  -  7:50 PM Functional validation challenges
(A Goldin)
7:50 PM  -  8:05 PM Goals of a US Consortium
(K Gwinn)
8:05 PM  -  8:30 PM

General discussion

Adjourn evening session

 
 
 Tuesday, August 31, 2010
8:00 AM  -  8:10 AM Session 2: GWAS in epilepsy
What is still worth doing? How big does it need to be? How can we accomplish it quickly?
(Chair, S. Berkovic)
8:10 AM  -  8:25 AM EPIGEN Consortium
(G. Cavalleri)
8:25 AM  -  8:40 AM EPICURE Consortium
(Bobby Koeleman)
8:40 AM  -  8:55 AM Philadelphia Consortium
(R. Buono)
8:55 AM  -  9:10 AM EPGP Consortium
(D. Lowenstein)
9:10 AM  -  9:25 AM Design and interpretation of large scale GWAS
(D. Goldstein)
9:25 AM  -  9:40 AM General discussion
9:40 AM  -  9:45 AM Session 3: Mendelian genetics, what’s next?
What has been done? Consortium or multiple individual labs? How do we maximize the benefit?
(Chairs A.Lehesjoki and P. De Jonghe)
9:45 AM  -  9:50 AM Introduction to the session
(P. De Jonghe)
9:50 AM  -  10:05 AM Setting the stage
(I. Helbig)
10:05 AM  -  10:20 AM Break
10:20 AM  -  10:40 AM Next generation sequencing in mapped Mendelian epilepsies
(J. Gecz)
10:40 AM  -  11:00 AM Next gen sequencing experience: whole exome
(A. Palotie)
11:00 AM  -  11:15 AM Whole exome sequencing in Mendelian epilepsies: experiences from a pilot study
(A. Lehesjoki)
11:15 AM  -  11:30 AM Diversity of phenotypes in Mendelian epilepsies
(I. Scheffer)
11:30 AM  -  11:40 AM Session summary: Strategic and practical issues to be resolved
(A. Lehesjoki and P. De Jonghe)
11:40 AM  -  12:00 PM General discussion
12:00 PM  -  1:30 PM Lunch
1:30 PM  -  1:40 PM Session 4: Rare variants
(Chair, D. Goldstein)
1:40 PM  -  1:55 PM Rare variants known to date
(L. Dibbens)
1:55 PM  -  2:10 PM Copy Number Variants in epilepsy
(H. Mefford)
2:10 PM  -  2:25 PM Copy Number Variants: emerging technologies, variable expressivity
(S. Girirajan)
2:25 PM  -  2:40 PM Large CNVs in epilepsy: Possible models for pathogenicity
(E. Heinzen)
2:40 PM  -  2:55 PM Rare variants in ion channels: Baylor study
(A. Goldman)
2:55 PM  -  3:10 PM Rare variants in familial IGE: EPICURE study
(F. Zara)
3:10 PM  -  3:25 PM Break
3:25 PM  -  3:40 PM Criteria for Selection of families for Next Gen sequencing
(R Ottman)
3:40 PM  -  4:00 PM Next gen sequencing strategies in epilepsy
(D. Goldstein)
4:00 PM  -  4:20 PM General discussion
4:20 PM  -  4:25 PM Session 5: Strategies for medium-high throughput functional studies to prioritize targets:
(Chairs C Reid & H Lerche)
4:25 PM  -  4:40 PM Functional validation: voltage gated channels
(A. Goldin)
4:40 PM  -  4:55 PM Mouse models in high throughput discovery era
(A. Escayg)
4:55 PM  -  5:15 PM High throughput technologies
(C. Reid)
5:15 PM  -  5:40 PM

General discussion

Adjourn

 
 
 Wednesday, September 1, 2010
8:00 AM  -  8:10 AM Session 6: Issues in Consortia
(Chair D Lowenstein)
8:10 AM  -  8:25 AM EPICURE experience of collaboration
(H. Lerche)
8:25 AM  -  8:40 AM Implementation of a Consortium
(D Tagle)
8:40 AM  -  8:55 AM Phenotyping standards/uniformity
(I. Scheffer)
8:55 AM  -  9:10 AM Informatics and Epilepsy Phenotyping
(G. Nesbitt)
9:10 AM  -  9:25 AM Informatics - sequence analysis
(D. Ge)
9:25 AM  -  9:40 AM Ownership and publication
(D. Lowenstein)
9:40 AM  -  10:10 AM General discussion
10:10 AM  -  10:30 AM BREAK
10:30 AM  -  10:35 AM Session 7: Outcomes and Challenges
10:35 AM  -  10:40 AM Session Chair Panel discussion
10:40 AM  -  10:45 AM Session 1 summary
10:45 AM  -  10:50 AM Session 2 summary
10:50 AM  -  10:55 AM Session 3 summary
10:55 AM  -  11:00 AM Session 4 summary
11:00 AM  -  11:05 AM Session 5 summary
11:05 AM  -  11:10 AM Session 6 summary
11:10 AM  -  11:40 PM General discussion
11:40 AM  -  12:00 PM DELIVERABLE: White Paper
12:00 PM  -  12:10 PM

Closing Remarks

(Stewart, Berkovic, Fureman)

Adjourn

Workshop Participant List

Cara Allen, Ph.D.
Health Science Policy Analyst
National Institute of Neurological Disorders and Stroke
National Institutes of Health
9000 Rockville Pike, Room 8A03
Bethesda, MD  20892
Phone:  301-496-9271
Email:  allencar@ninds.nih.gov

Susan Axelrod, M.B.A.
Chair, Board of Directors
Citizens United for Research in Epilepsy
223 West Erie Street, Suite 2SW
Chicago, IL  60654
Phone:  312-255-1801
Email:  saxelrod@cureepilepsy.org

Julia Bailey, Ph.D.
University of California, Los Angeles
Veterans Affairs Greater Los Angeles Healthcare System
Building 500
11301 Wilshire Boulevard, Room 3405
Los Angeles, CA  90073
Phone:  310-268-3129
Email:  jbailey@mednet.ucla.edu

Alex Bassuk, M.D., Ph.D.
Assistant Professor
University of Iowa
25 South Grand Avenue
Medical Laboratories 2044
Iowa City, IA  52242
Phone:  315-385-4648
Email:  alexander-bassuk@uiowa.edu

Russell J. Buono, Ph.D.
Associate Chief of Staff, Research
Coatesville Veterans Affairs Medical Center
CVAMC Building 11
1400 Blackhorse Hill Road, Room 112
Coatesville, PA  19320
Phone:  610-384-7711, ext. 4271
Email:  russell.buono@va.gov

Gianpiero Cavalleri, Ph.D.
Biomedical Research Lecturer
Royal College of Surgeons
Education and Research Centre
Smurfit Building, Beaumont Hospital
Beaumont, Dublin
IRELAND
Phone:  +353-1-8093825
Email:  gcavalleri@rcsi.ie

Karen Conneely, Ph.D.
Assistant Professor
Emory University
615 Michael Street, Suite 301
Atlanta, GA  30322
Phone:  404-727-2986
Email:  kconnee@emory.edu

Chris Cotsapas, Ph.D.
Assistant Professor of Neurology
Department of Neurology
Yale University School of Medicine
15 York Street, LCI 708
New Haven, CT  06520
Phone:  617-643-1634
Email:  chrisc@chgr.mgh.harvard.edu

Joyce Cramer, B.S.
President
Epilepsy Therapy Project and Yale University School of Medicine
49 Briar Hollow Lane, Unit 1804
Houston, TX  77027
Phone:  713-552-0289
Email:  joyce@epilepsytherapyproject.org

Dennis Dlugos, M.D.
Director
Pediatric Regional Epilepsy Program
Division of Neurology
Children’s Hospital of Philadelphia (CHOP)
34th Street and Civic Center Boulevard
10th Floor CTRB, Room 10020
Philadelphia, PA  19104
Phone:  215-590-1719
Email:  dlugos@email.chop.edu

Michael Epstein, Ph.D.
Associate Professor
Emory University
615 Michael Street, Suite 301
Atlanta, GA  30322
Phone:  404-712-8289
Email:  mpepste@emory.edu

Andrew Escayg, Ph.D.
Associate Professor
Department of Human Genetics
Emory University
615 Michael Street, Whitehead Building
Atlanta, GA  30322
Phone:  404-712-8328
Email:  aescayg@emory.edu

Brandy Fureman, Ph.D.
Program Director
Channels, Synapses, and Circuits
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2138
Rockville, MD  20852
Phone:  301-496-1917
Email:  furemanb@ninds.nih.gov

Alan Goldin, M.D., Ph.D.
Professor
Department of Microbiology and Molecular Genetics
University of California, Irvine
240 Medical Sciences B
Irvine, CA  92697
Phone:  949-824-5334
Email:  agoldin@uci.edu

Alica Goldman, M.D., Ph.D.
Assistant Professor
Department of Neurology
Baylor College of Medicine
One Baylor Plaza, NB 302
Houston, TX  77030
Phone:  713-798-3961
Email:  agoldman@bcm.tmc.edu

David Goldstein, Ph.D.
Professor
Director
Institute for Genome Sciences & Policy
Duke University
Box 91009
Durham, NC  27708
Phone:  919-668-3565
Email:  d.goldstein@duke.edu

David A. Greenberg, Ph.D.
Director
Division of Statistical Genetics
Department of Biostatistics
Mailman School of Public Health and New York State Psychiatric Institute
Columbia-Presbyterian Medical Center
722 West 168 Street, Room 623
Mailman School of Public Health
New York, NY  10032
Phone:  212-342-0488
Email:  dag@shallot.cpmc.columbia.edu

Bobby Koeleman, P.C.
Associate Professor
Department of Medical Genetics
University Medical Center Utrecht
Universiteitsweg 100
Utrecht
THE NETHERLANDS
Phone:  31-88-756-8116
Email:  b.p.c.koeleman@umcutrecht.nl

Miriam Leenders, Ph.D.
Health Program Specialist
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2121
Rockville, MD  20852
Phone:  301-451-9363
Email:  leenderm@ninds.nih.gov

Anna-Elina Lehesjoki, M.D., Ph.D.
Professor
Folkhälsan Institute of Genetics and University of Helsinki
Folkhälsan Institute of Genetics
Biomedicum Helsinki
Haartmaninkatu 8
Helsinki  290
FINLAND
Phone:  +358-9-191-25072
Email:  anna-elina.lehesjoki@helsinki.fi

Holger Lerche
Professor
Department of Neurology
University Hospital Tübingen
Hoppe-Seyler-Strasse 3
Tübingen  72076
GERMANY
Phone:  +49-7071-29-82057
Email:  holger.lerche@uni-tuebingen.de

Aarno Palotie, M.D., Ph.D.
Professor
Head of Medical Sequencing
Wellcome Trust Sanger Institute and Institute for Molecular Medicine
Hinxton, Cambridge
UNITED KINGDOM
Phone:  +44-122-349-6848
Email:  ap8@sanger.ac.uk

Ann Poduri, M.D., M.P.H.
Pediatric Epileptologist
Children’s Hospital Boston
Fegan 9
300 Longwood Avenue
Boston, MA  02115
Phone:  617-355-6815
Email:  annapurna.poduri@childrens.harvard.edu

Christopher Alan Reid, Ph.D.
University of Melbourne
L2 Alan Gilbert Building
Grattan Street
Melbourne  301
AUSTRALIA
Phone:  61-3-83441954
Email:  careid@unimelb.edu.au

Ingrid Scheffer, M.B.B.S., Ph.D., FRACP
Professor
Austin Health Epilepsy Research Centre
University of Melbourne
Neurosciences Building, Level 1
Austin Health Repatriation Campus
Banksia Street
Heidelberg  3081
AUSTRALIA
Phone:  6139-496-2737
Email:  scheffer@unimelb.edu.au

David A. Wheeler, Ph.D.
Associate Professor
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, Room 428 E
Houston, TX  77030
Phone:  713-798-6539
Email:  wheeler@bcm.edu

Vicky Whittemore, Ph.D.
Vice President and Chief Scientific Officer
Tuberous Sclerosis Alliance
801 Roeder Road, Suite 750
Silver Spring, MD  20910
Phone:  240-638-4645
Email:  vwhittemore@tsalliance.org

Melodie Winawer, M.D., M.S.
Assistant Professor of Neurology
Columbia University
G.H. Sergievsky Center, PH 19-124
630 West 168th Street
New York, NY  10032
Phone:  212-342-1336
Email:  mw211@columbia.edu

Federico Zara, Ph.D.
Institute G. Gaslini
Largo Gaslini, 5
Genova  16147
ITALY
Phone:  39-010-5636-606
Email:  federicozara@ospedale-gaslini.ge.it

Stéphanie Baulac, Ph.D.
Researcher
Institut National de la Santé et de la Recherche Médicale (INSERM)
Hôpital de la Pitié-Salpêtrière
Batiment Pharmacie, 4ème étage
47 boulevard de l’Hôpital
Paris  75013
FRANCE
Phone:  33-14-216-2207
Email:  stephanie.baulac@upmc.fr

Jocelyn Bautista, M.D.
Assistant Professor of Medicine
Department of Neurology
Cleveland Clinic
Staff Physician
Epilepsy Center
9500 Euclid Avenue, S51
Cleveland, OH  44195
Phone:  216-444-7485
Email:  bautisj@ccf.org

Samuel Berkovic, M.D.
Epilepsy Research Centre/
International League Against Epilepsy
300 Waterdale Road
Heidelberg West 3081
AUSTRALIA
Phone:  11-6139-496-2330
Email:  s.berkovic@unimelb.edu.au

Peter De Jonghe, M.D., Ph.D.
Associate Professor
Neurogenetics Group
Department of Molecular Genetics, VIB
University of Antwerp - CDE
Universiteitsplein 1
Antwerpen
BELGIUM
Phone:  +32-3-265-10-50
Email:  peter.dejonghe@molgen.vib-ua.be

Antonio Delgado-Escueta, M.D.
Professor
University of California, Los Angeles
Director
Veterans Affairs Epilepsy Center of Excellence
Veterans Affairs Greater Los Angeles Healthcare System
Building 500
11301 Wilshire Boulevard, Suite 3405
Los Angeles, CA  90073
Phone:  310-268-3129
Email:  escueta@ucla.edu

Leanne Dibbens, Ph.D.
Women’s and Children’s Hospital
Epilepsy Research at SA Pathology
Level 9 Rieger Building WCH
72 King William Road
North Adelaide 5006
AUSTRALIA
Phone:  61-88-161-6711
Email:  leanne.dibbens@health.sa.gov.au

Tracy Dixon-Salazar, Ph.D.
Postdoctoral Fellow
University of California, San Diego
9500 Gilman Drive, 0665
La Jolla, CA  92093
Phone:  858-822-3538
Email:  tdixonsa@ucsd.edu

Dongliang Ge, Ph.D.
Assistant Professor
Duke University Center for Human Genome Variation
450 Research Drive, Box 91009
LSRC B Wing, Room 330B
Durham, NC  27708
Phone:  919-668-1428
Email:  d.ge@duke.edu

Jozef Gecz, Ph.D.
Professor
University of Adelaide
Neurogenetics Laboratory
SA Pathology at Women’s and Children’s Hospital
72 King William Road
North Adelaide
AUSTRALIA
Phone:  88-161-6339
Email:  jozef.gecz@adelaide.edu.au

Santhosh Girirajan, M.B.B.S., Ph.D.
Senior Fellow
University of Washington
Foege Building, S 413
3720 15th Avenue, N.E.
Seattle, WA  98105
Phone:  206-685-7336
Email:  sangi@u.washington.edu

Tracy Glauser, M.D.
Director
Comprehensive Epilepsy Center
Division of Pediatric Neurology
Cincinnati Children’s Hospital Medical Center
3333 Burnet Avenue, MLC 2015
Cincinnati, OH  45229
Phone:  513-636-7314
Email:  glauser@cchmc.org

Katrina Gwinn, M.D.
Scientific Officer
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2143
Bethesda, MD  20892
Phone:  301-496-5745
Email:  gwinnk@ninds.nih.gov

Erin Heinzen, Pharm.D., Ph.D.
Assistant Professor
Duke University
450 Research Drive, Box 91009
LSRC B Wing, 327B
Durham, NC  27708
Phone:  919-684-8684
Email:  elh14@duke.edu

Ingo Helbig, Dr. med.
Department of Neuropediatrics
University Medical Center Schleswig-Holstein
Arnold-Heller-Strasse 3
Building 9
University Children’s Hospital
Kiel  24105
GERMANY
Phone:  +49-431-597-1622
Email:  ingo.helbig@uk-sh.de

Shinichi Hirose, M.D., Ph.D.
Professor
Fukuoka University School of Medicine
45-1, 7-chome, Jonan-ku
Fukuoka
JAPAN
Phone:  +81-92-801-1011 (3390)
Email:  hirose@fukuoka-u.ac.jp

Jennifer Kearney, Ph.D.
Assistant Professor of Medicine
Vanderbilt University
529 Light Hall
2215 Garland Avenue
Nashville, TN  37232
Phone:  615-936-2660
Email:  jennifer.kearney@vanderbilt.edu

Daniel H. Lowenstein, M.D.
Professor and Vice Chair
Department of Neurology, Box 0114
University of California, San Francisco
San Francisco, CA  94143
Phone:  415-502-2365
Email:  lowenstein@medsch.ucsf.edu

Carla Marini, Ph.D.
Child Neurology Unit
A. Meyer Pediatric Hospital
Viale Pieraccini 24
Florence  50133
ITALY
Phone:  39055-566-2389
Email:  c.marini@meyer.it

Heather Mefford, M.D., Ph.D.
A
ssistant Professor
University of Washington
1959 N.E. Pacific Street
Box 356320
Seattle, WA  98195
Phone:  206-453-9572
Email:  hmefford@u.washington.edu

Gerry Nesbitt, M.B.A., PMP
Director of Bioinformatics
University of California, San Francisco
236 Seasons Drive
Wexford, PA  15090
Phone:  412-889-3295
Email:  gnesbitt@epgp.org

Ruth Ottman, Ph.D.
Professor of Epidemiology
Columbia University
630 West 168th Street
P&S Box 16
New York, NY  10032
Phone:  212-305-7892
Email:  ro6@columbia.edu

Randall Stewart, Ph.D.
Program Director
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard
Bethesda, MD  20892
Phone:  301-496-1917
Email:  stewartr@ninds.nih.gov

William Stewart, Ph.D.
Assistant Professor
Columbia University
722 West 168th Street
New York, NY  10032
Phone:  212-342-0480
Email:  ws2267@columbia.edu

Danilo Tagle, Ph.D.
Program Director in Neurogenetics
National Institute of Neurological Disorders and Stroke
National Institutes of Health
6001 Executive Boulevard, Room 2114
Bethesda, MD  20895
Phone:  301-496-5745
Email:  tagled@ninds.nih.gov

Michelle Welborn, Pharm.D.
Founder and President
Intractable Childhood Epilepsy Alliance (ICE)
464 Heritage  Drive
Lewisville, NC  27023
Phone:  336-918-9440
Email:  michellewelborn@icepilepsy.org

Last updated April 4, 2011