Resource Files
CCF Epilepsy Genetics, Day 3 Presentations
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Agenda
Day 1: Friday, September 11th (All times listed are in US Eastern Daylight Time)
2:00-2:15 pm |
Welcome Dennis Lal |
Moderator: Dennis Lal | |
2:15-3:00 pm |
Keynote Presentation PTEN-opathies: From Biological Insights to Evidence-Based Precision Medicine Charis Eng |
3:00-3:30 pm | BREAK |
Moderators: Dennis Lal and Arthur Stefanski | |
3:30-4:00 pm |
Review state and promise of genetics
in clinical epilepsy/practice Dennis Lal |
4:00-4:30 pm |
Epilepsy Genetics – The NIH/NINDS
perspective Vicky Whittemore |
4:30-6:00 pm |
Genetic test selection and
interpretation Allison Schreiber: Molecular Testing for Epilepsy: Genetic Counseling Considerations David Flannery: Digital Transformation of Clinical Genetic Services Delivery |
Day 2: Saturday, September 12th (All times listed are in US Eastern Daylight Time)
Moderators: Marie Gramm, Eduardo Perez-Palma, Dennis Lal | |
9:00-10:40 am |
Genotype-phenotype correlation
studies and tailored treatment for the
most common monogenic epilepsies- Part
1 Andreas Brunklaus: Genotype-phenotype correlation studies and tailored treatment for the most common monogenic epilepsies: SCN1A Rikke Steensbjerre Møller: Genotype-phenotype Correlation Studies and Tailored Treatment for the Most Common Monogenic Epilepsies: SCN2A/SCN8A Johannes Lemke: GRIN genes Q&A |
10:40-11:00 am | BREAK |
Moderators: Eduardo Perez-Palma, Arthur Stefanski, Dennis Lal | |
11:00-12:30 pm |
Genotype-phenotype correlation
studies and tailored treatment for the
most common monogenic epilepsies - Part
2 John Milichap: Genotype-phenotype Correlation Studies and Tailored Treatment for the Most Common Monogenic Epilepsies: KCNQ2 Heather Olson: Genotype-phenotype Analysis in Epilepsy: CDKL5 Deficiency Disorder Ajay Gupta: Genotype-Phenotyp Correlation and Therapeutic Implications: An mTOuR of Tuberous Sclerosis Complex and Epilepsy Q&A |
12:30-2:00 pm | BREAK |
Moderators: Costin Leu, Noah Dubasik, Dennis Lal | |
2:00-4:00 pm |
Other types of genetic
epilepsies Sumit Parikh: Mitochondrial Dz & Epilepsy: The Basics Annapurna Poduri: Somatic Mutation and Mosaic Variants in Epilepsy Melanie Bahlo: Identification of Repeat Expansions with Whole Exome and Whole Genome Sequencing in Epilepsy Patients Elia Pestana Knight: EEG in infantile genetic epilepsies Q&A |
Moderators: Eduardo Perez-Palma, Arthur Stefanski, Dennis Lal | |
4:00-6:00 pm |
Patient support through gene
level family organizations Heidi Grabenstatter: The International Foundation for CDKL5 Research: A History Veronica Hood: Dravet Syndrome Amber Freed: Maxwell’s Story: SLC6A1 Leah Schust: The Power of the One to Inspire the Many: The Power of the Many to Cure the One Q&A |
Day 3: Sunday, September 13th (All times listed are in US Eastern Daylight Time)
Moderators: Javier Lopez, Tobias Bruenger, Dennis Lal | |
9:00-10:30 am |
Molecular studies of genes
associated with epilepsies – Part
1 Kevin Bender: Neurodevelopmental Effects of SCN2A Loss of Function Jennifer Kearney: Mouse models of genetic epilepsies Stephen Traynelis: Molecular Studies of Genes Associated with Epilepsies: GRIN Gene Family (NMDA Receptors) Alfred George, Jr.: Molecular Studies of Genes Associated with Epilepsies: KCNQ2 Q&A |
10:30-11:00 am | BREAK |
Moderators: Javier Lopez, Tobias Bruenger, Dennis Lal | |
11:00-12:30 pm |
Molecular studies of genes
associated with epilepsies – Part
2 Andrew Escayg: SCN1A Epilepsy: New Treatments Costin Leu: Polygenic epilepsies Eduardo Perez-Palma: Similarity among epilepsy genes Q&A |
12:30-2:00 pm | BREAK |
Moderators: Javier Lopez, Tobias Bruenger, Dennis Lal | |
2:00-5:30 pm |
Available and future gene-based
therapies in epilepsy Orrin Devinsky: Epilepsy therapeutics for genetic epilepsies Ana Mingorance: Epilepsy therapeutics in development Miriam Meisler: Antisense Oligonucleotide (ASO) treatment in epilepsy Imad Najm: Epilepsy Surgery Genetics – Are we there yet? Q&A |