Stage

CCF Epilepsy Genetics, Day 3 Presentations

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