Gain insights and understanding into the impact of these variants on distinct traits.Cure GABA-A | Educational Session with Q&A | Phenotypic manifestations observed in individuals with GABAAR VariantsJoin us for an educational session with Dr. Sebastian Ortiz.Dr. Sebastian Ortiz is presently engaged in a comprehensive examination of the phenotypic manifestations observed in individuals possessing GABAAR […]
Motor Cortex Measures of Cortical Inhibition: What the motor system can tell us about the rest of the brain.Cure GABA-A | Educational Session with Q&A | Phenotypic manifestations observed in individuals with GABAAR VariantsJoin us for an educational session with Dr. Alexander Rotenberg.Dr. Alexander Rotenberg is a prominent neurologist and epileptologist, serving as the Director […]
Dr. Michael Rogawski, from UC Davis Health, will explain the Clinical presentation of GABR Variants and current treatmentsJoin us for an educational session with Dr. Michael Rogawski.Dr. Michael Rogawski, a professor and physician at UC Davis Health, will explain the Clinical presentation of GABR Variants and current treatments.He has been elected a fellow of the […]
Join us for an engaging online session where we'll explore the advantages of a Natural Historical StudyCure GABA-A | Educational Session with Q&A | Understanding the benefits to patients of a Natural History StudyEvent Description: Join us for an informative online session on GABA-A, where we will delve into the benefits a Natural History Study […]
Dr. Michael Rogawski, from UC Davis Health, will help us understand GABA-A and its relationship to epilepsyJoin us for an educational session with Dr. Michael Rogawski.Dr. Michael Rogawski, a professor and physician at UC Davis Health, will help us understand GABA-A and its relationship to Epilepsy.Dr. Rogawski has been elected a fellow of the National […]
CombinedBrain will do an onsite bio sample collectionCombinedBrain will be collecting BioSamples from patients with genetic mutations.This is an opportunity for our Cure GABA-A community to donate their bio samples.Learn MoreWhat does this mean? Why is this important?Please watch this video below:
Dr. Juliet Knowles is a Cure GABA-A recommended physician at Standford MedicineCure GABA-A | Recommended Physician Meet and Greet | Dr. Juliet KnowlesJoin us for an educational session with Dr. Juliet Knowles, MD, PhD, Cure GABA-A's Recommended Physicians at Stanford University.Dr. Juliet Knowles will provide valuable insights into the clinical presentation of GABR Variants and […]
His research delves into rare genetic epilepsies associated with specific gene mutations, utilizing advanced techniques such as brain sliceFamily Presentation with Dr. Kirill ZavalinCure GABA-A | The Role of GABA During DevelopmentJoin us for an informative meet and greet session with Dr. Kirill Zavalin, a dedicated postdoctoral fellow at Vanderbilt University Medical Center. Dr. Zavalin […]
What do we need to know about Gain of Function GABAA receptor variants?Understanding Gain of Function GABAA Receptor VariantsGABAA Receptor Variants | Research Insights Session | Dr. Lidong LiuJoin us for an enlightening session with Dr. Lidong Liu, Senior Research Scientist at the University of British Columbia's Department of Neurology and the DM Centre for […]
We invite you to a special presentation that will NOT be recorded. Dr. Ortiz will discuss three key points for our community.We invite you to a special presentation that will NOT be recorded. Dr. Ortiz will discuss three key points at our upcoming Cure GABA-A meeting for patients and caregivers:1. The preliminary results of the […]
Aleksandra Foksinska, Program Manager, and Alexandria Howard, Case Analyst at UAB Hugh Kaul Precision Medicine Institute, research AI-drivenAleksandra Foksinska and Alexandria Howard will both discuss Artificial Intelligence (AI)-driven Drug Repurposing for Rare Disease.Aleksandra Foksinska is the Program Manager at the UAB Hugh Kaul Precision Medicine Institute. Her background is in Molecular Biology (BS) and Biomedical […]
The research focuses on genetic epilepsy, aiming to identify severe epilepsy genotypes and develop precision therapies.The current landscape shows increasing insights into human genetics, yet the translation of genetic data into actionable patient care concepts lags behind. This gap is influenced by two primary challenges: the variability in clinical outcomes associated with different genetic variants […]
