Cleveland Clinic

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 SchreiberMolecular Testing for Epilepsy: Genetic Counseling Considerations
David FlanneryDigital Transformation of Clinical Genetic Services Delivery

Saturday, September 12th (All times listed are in US Eastern Daylight Time)

Moderators: Marie Gramm, Eduardo Perez-Palma, Dennis Lal
9:00-10:30 am Genotype-phenotype correlation studies and tailored treatment for the most common monogenic epilepsies- Part 1
Andreas BrunklausGenotype-phenotype correlation studies and tailored treatment for the most common monogenic epilepsies: SCN1A
Rikke Steensbjerre MøllerGenotype-phenotype Correlation Studies and Tailored Treatment for the Most Common Monogenic Epilepsies: SCN2A/SCN8A
Johannes LemkeGRIN genes
10:30-11:00 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 MilichapGenotype-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
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 PoduriSomatic Mutation and Mosaic Variants in Epilepsy
Melanie BahloIdentification of Repeat Expansions with Whole Exome and Whole Genome Sequencing in Epilepsy Patients
Elia Pestana KnightEEG in infantile genetic epilepsies
Moderators: Eduardo Perez-Palma, Arthur Stefanski, Dennis Lal
4:00-6:00 pm Patient support through gene level family organizations
Heidi GrabenstatterThe International Foundation for CDKL5 Research: A History
Veronica HoodDravet Syndrome
Amber FreedMaxwell’s Story: SLC6A1
Leah SchustThe Power of the One to Inspire the Many: The Power of the Many to Cure the One

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 BenderNeurodevelopmental Effects of SCN2A Loss of Function
Jennifer KearneyMouse models of genetic epilepsies
Stephen TraynelisMolecular Studies of Genes Associated with Epilepsies: GRIN Gene Family (NMDA Receptors)
Alfred George, Jr.Molecular Studies of Genes Associated with Epilepsies: KCNQ2
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 EscaygSCN1A Epilepsy: New Treatments
Costin LeuPolygenic epilepsies
Eduardo Perez-PalmaSimilarity among epilepsy genes
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 DevinskyEpilepsy therapeutics for genetic epilepsies
Ana MingoranceEpilepsy therapeutics in development
Miriam MeislerAntisense Oligonucleotide (ASO) treatment in epilepsy
Imad NajmEpilepsy Surgery Genetics – Are we there yet?