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translation to English and Spanish

Speakers

Organizing Committee

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.
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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.
cleg@udd.cl
Av. Plaza 680, Las Condes
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