Speakers
MD. Neurologist, Epileptologist, Director of Institute of Neurosciences at Vithas University Hospitals Madrid. Spain.
Ángel Aledo
PhD. Professor of Epilepsy Genetics & Head of the Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Rikke S. Møller2
MD. Paediatric Neurologist. Honorary Professor, University of Glasgow and Lead Clinician, Scottish Paediatric Epilepsy Network (SPEN) Royal Hospital for Children, Glasgow, UK. (Virtual)
Andreas Brunklaus1
MD. Prof. Dr. Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.
Vice-President of the International League Against Epilepsy (ILAE), Argentina.
Roberto Caraballo3
PhD. Senior vice president of Discovery Research and a co-founder at Stoke Therapeutics. USA.
Isabel Aznarez
Mom, Founder and CEO. SLC6A1 Connect Foundation. USA.
Amber Freed
PhD. Founding Director for the Center of Neurogenetics and Associate Professor of McGovern Medical School, UTHealth Houston, Texas, USA.
Dennis Lal1
MD, PhD(c). Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Sebastián Ortiz
MD. Director of the Neurodevelopmental Disabilities Program, Joe DiMaggio Children's Hospital and Adjunct Assistant Professor, Stiles-Nicholson Brain Institute, Florida Atlantic University, USA. (Virtual)
Andrés Jiménez
Director of Syngap Research Fund LATAM and Co-founder of SHER Hispanic Society of Rare Diseases. USA.
Victoria Arteaga
MD, PhD.Pediatric Neurologist. Head of research, Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark
Allan Bayat
MD, PhD. Professor of Medical Genetics and Genomic Medicine at the Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Brazil.
Iscia Lopez Cendes
Mother, President, and Founder of SCN2A Brazil, Brazil.
Grace Kelly
Biochemist specializing in Clinical Genetics, Prof. Dr. Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.
Matías Juanes
PhD. Associate Professor, Clinical Neurogenetics Laboratory, Center for Genetics and Genomics, Faculty of Medicine, Universidad del Desarrollo, Santiago, Chile.
Eduardo Pérez
MD. Pediatric Neurologist, Department of Pediatrics, Clínica Alemana and Dr. Alfonso Asenjo Institute of Neurosurgery, Santiago, Chile.
Viviana Venegas1
MD. Pediatric Neurologist, Department of Pediatrics, Clínica Alemana and Neurophysiology Laboratory, Hospital Luis Calvo Mackenna, Santiago, Chile.
Carolina Álvarez2
PhD. Coordinator of LARGE-PD. Associate Staff, Genomic Medicine Institute (GMI), Lerner Research Institute (LRI), Cleveland Clinic, Cleveland, Ohio, USA.
Ignacio Mata
PhD. Biologist, Genetic Counselor, and Lawyer. Scientific Director of FAST Latam (Angelman Syndrome). Argentina.
Melina Klurfan
MD. Pediatric Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile. School of Medicine, Universidad San Sebastián, Patagonia Campus, Puerto Montt, Chile.
Sebastian Silva
MD. Pediatric Neurologist, Epileptologist, Medical Director of the Comprehensive Epilepsy and Neurodevelopment Clinic, Santiago, Chile. Adjunct Professor, School of Medicine, Universidad Finis Terrae, Santiago, Chile.
Loreto Ríos
MD. Pediatric Neurologist, Hospital Carlos Van Buren, Valparaíso, Chile.
Lucila Andrade
MD. Staff physician, Cleveland Clinic Epilepsy Center. Associate Professor, Cleveland Clinic Leaner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA. (Virtual)
Elia Pestana-Knight Organizing Committee
PhD. Associate Professor, Clinical Neurogenetics Laboratory, Center for Genetics and Genomics, Faculty of Medicine, Universidad del Desarrollo, Santiago, Chile.
Eduardo Pérez
Director for Latin America of the Syngap1 Research Fund and Co-founder of SHER Hispanic Society of Rare Diseases. United States
Victoria Arteaga
MD, PhD(c). Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Sebastián Ortiz
MD. Neurologist, Epileptologist, Director of the Synaptia Institute of Neurosciences at Vithas University Hospitals Madrid. Professor of Biomedicine at Francisco de Vitoria University. Spain.
Ángel Aledo
MD. Pediatric Neurologist, Department of Pediatrics, Clínica Alemana and Dr. Alfonso Asenjo Institute of Neurosurgery, Santiago, Chile
Viviana Venegas
MD. Pediatric Neurologist, Department of Pediatrics, Clínica Alemana and Neurophysiology Laboratory, Hospital Luis Calvo Mackenna, Santiago, Chile.
Carolina Álvarez
PhD. Founding Director for the Center of Neurogenetics and Associate Professor of McGovern Medical School, UTHealth Houston, Texas, Estados Unidos.
Dennis Lal
Nurse
Clinical Coordinator, Clinica Alemana Santiago and Universidad del Desarrollo. Santiago, Chile.
Dominga Berrios
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Program
Variant Interpretation Workshop
During the first day of the congress, a workshop will be held focused on the interpretation of variants in patients with epilepsy and neurodevelopmental disorders.
Click on a day to display the corresponding program
08:00 - 08:30
Registration
08:30 - 10:00
From Genes to Phenotypes
08:30 - 08:50
Distinct clinical phenotypes associated with LOF vs GOF GABAA-receptor variants. Sebastián Ortiz, Colombia/Denmark
08:50 - 09:10
CDKL5 deficiency, diagnosis, and management. Elia Pestana-Knight, Cuba/USA
09:10 - 09:30
Disorders associated with SYNGAP1 and the experience of the Syngap1 Research Fund. Victoria Arteaga, MBA, Colombia/USA
09:30 - 09:50
GRIA3 related disorder. From genotypes to phenotypes. Allan Bayat, Denmark
09:50 - 10:00
Discussion
10:00 - 10:30
Coffee Break
10:30 - 12:00
Clinial cases
10:30 - 10:45
Selected Clinical Case
10:45 - 11:00
Selected Clinical Case
11:00 - 11:15
Selected Clinical Case
11:15 - 11:30
Selected Clinical Case
11:30 - 11:45
Discussion
11:45 - 13:20
Lunch / Sponsors
13:20 - 15:00
New methods and collaborations
13:20 - 13:50
Online resources for genome-informed care in epilepsy. Dennis Lal , PhD, Alemania/Estados Unidos
13:50 - 14:15
Studying Rare and Common Variants in Chilean Patients with Epilepsy. Eduardo Pérez, Chile
14:15 - 14:40
The Power of Collaboration in Latin America: The Case of LARGE-PD. Ignacio Mata, Spain/USA
14:40 - 15:00
Drug repurposing in genetic epilepsies. Allan Bayat
15:00 - 15:30
Coffe Break
15:30 - 17:15
Family Perspectives
15:30 - 15:50
FAST: Driving Research and New Therapies - A Transferable Model to Other Neurodevelopmental Disorders. Melina Klurfan, Argentina
15:50 - 16:10
The Experiences of the SCN2A Brazil Foundation. Grace Kelly, Brazil
16:10 - 16:40
Fighting Like a Mother Worldwide. Amber Freed, USA
16:40 - 17:15
Panel Discussion: What Are the Local Challenges for Patient Organizations? Victoria Arteaga, Grace Kelly, Melina Klurfan, Amber Freed
17:15 - 18:15
Posters
18:15 - 19:30
Reception Cocktail
08:00 - 08:30
Registration
08:30 - 10:00
Free Communications and clinical cases
08:30 - 08:50
Epilepsy Surgery in Patients with Refractory Genetic Epilepsy. Lucila Andrade, Chile
08:50 - 09:15
The Role of Genomics and Metabolomics in Technified Ketogenic Therapy. Mitotherapies. Colombia
09:15 - 09:40
Genetic Modifiers as Therapeutic Targets for Epilepsy-Associated Lysosomal Diseases. Andrés Klein, Chile
09:40 - 10:00
TBD
10:05 - 10:30
Coffee break
10:20 - 12:00
Clinical Management of Genetic Epilepsies
10:20 - 10:50
Epileptic Encephalopathy, Development and Genetics. Roberto Caraballo, Argentina
10:50 - 11:15
Therapeutic Approach to DEE. Loreto Ríos, Chile
11:15 - 11:35
The Danish Epilepsy Centre, Filadelfia: Multidisciplinary treatment of epilepsy on a nation-wide level
11:35 - 12:00
Panel Discussion: Multidisciplinary Management Strategies in Genetic Epilepsies. Ángel Aledo, Loreto Ríos, Roberto Caraballo
12:00 - 12:30
Coffee break
12:30 - 13:30
Closing presentation
12:30 - 13:20
The Journey Towards a Potential Disease-Modifying Treatment for Dravet Syndrome. Isabel Aznarez, Uruguay/USA
13:20 - 13:30
Closing Ceremony
Registration & abstract submission
Registration and abstract submission are open! Take advantage of early-bird prices until November 30th. We have diferential rates for Clinitians, Scientists, Patients and Families. Virtual option is also available.
Contact
For questions or requests related to our CLEG congress, contact us directly at cleg@udd.cl or complete the following contact form. We are here to help you. You can also subscribe to our mailing list here to receive updates and news about the congress.