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DTSTART;TZID=America/Los_Angeles:20250926T130000
DTEND;TZID=America/Los_Angeles:20250926T143000
DTSTAMP:20260407T053000
CREATED:20250923T065822Z
LAST-MODIFIED:20250926T071539Z
UID:4354-1758891600-1758897000@curegabaa.org
SUMMARY:CURE GABA-A | Grann Pharmaceuticals mRNA Protein Replacement  for GABAARs
DESCRIPTION:First glimpse at mRNA protein replacement for GABAAR disorders. Join CURE GABA-A + Grann Pharma live Q&A this Friday at 1PM PST.\n\n\nCURE GABA-A | Grann Pharmaceuticals: mRNA Protein Replacement for GABAAR Disorders \n \nDate & Time\n📅 Friday\, September 26th 2025🕐 1:00 PM PST | 4:00 PM EST \nLocation\nOnline Event (Zoom link provided upon registration) \nDescription\n🚨 STOP WHAT YOU’RE DOING 🚨 \nThis is the moment everything we’ve worked for comes down to. We started CURE GABA-A with one mission: to get pre clinical data for treatments relating to GABAAR disorders as quickly and safely as possible. And now\, we are finally at the beginning. \nGrann Pharmaceuticals has developed an mRNA-based protein replacement therapy for GABRA1 and GABRG2 variants. This therapy is already produced and ready for preclinical testing. With the right support\, we can bring it to the FDA and into clinical trials by the end of 2026. \nBut science alone isn’t enough. We need the community to band together now\,  fundraising\, donating\, and spreading the word\,  to make this therapy a reality for children and families. \nJoin us for a live Q&A with Tommy Temple\, CEO of Grann Pharmaceuticals\, as he explains: \n\nWhat mRNA protein replacement therapy is\nWhy it could be the first treatment for GABAAR disorders\nThe FDA pathway and clinical trial timeline\nHow YOU can make the difference to bring this to clinic\n\n💙 Together we can move from hope to treatment. \n \nAgenda\n\nWelcome from CURE GABA-A\nPresentation by Tommy Temple (CEO\, Grann Pharmaceuticals)\nLive Q&A session\nCall to Action: How to Fundraise and Donate\n\n \nTickets\n🎟️ Free – Registration required.Donations encouraged: https://www.facebook.com/donate/4300256346872932/ \nor GoFundMe: https://www.gofundme.com/f/lifesaving-gene-therapy-drug \n \nCall to Action\n✨ Every donation moves us closer to the first-ever GABAAR clinical trial.✨ Every fundraiser brings hope to families waiting for answers. \n👉 Register now\, join the movement\, and help us make history.
URL:https://curegabaa.org/event/cure-gaba-a-grann-pharmaceuticals-mrna-protein-replacement-for-gabaars/
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ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240628T100000
DTEND;TZID=America/Los_Angeles:20240628T110000
DTSTAMP:20260407T053000
CREATED:20240626T183309Z
LAST-MODIFIED:20240627T184424Z
UID:3096-1719568800-1719572400@curegabaa.org
SUMMARY:Cure GABA-A | Genotype-phenotype correlation&precision treatment of epilesy
DESCRIPTION:The research focuses on genetic epilepsy\, aiming to identify severe epilepsy genotypes and develop precision therapies.\n\n\nThe 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 within a single gene\, complicating treatment decisions\, and the empirical nature of current epilepsy treatments due to the absence of targeted therapies for specific genetic changes. \nOur specific focus is on the genetic LOF variant D120N in the GABRB3 gene’s beta-3 subunit\, known for severe forms of developmental and epileptic encephalopathy (DEE)\, such as Lennox Gastaut Syndrome (LGS). This variant’s location in the gene’s extracellular region suggests a correlation with clinical severity based on functional domains. However\, understanding which genetic variants correlate with mild or severe presentations remains a challenge\, impacting prognostication and treatment strategies. Furthermore\, the pathophysiology and underlying cellular mechanisms associated with these genetic variants require further investigation. \nThrough this research\, I aim to contribute to the advancement of personalized medicine\, ultimately improving outcomes for children affected by genetic epilepsy.
URL:https://curegabaa.org/event/cure-gaba-a-genotype-phenotype-correlationprecision-treatment-of-epilesy/
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ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240627T130000
DTEND;TZID=America/Los_Angeles:20240627T140000
DTSTAMP:20260407T053000
CREATED:20240626T183301Z
LAST-MODIFIED:20240627T184424Z
UID:3092-1719493200-1719496800@curegabaa.org
SUMMARY:Cure GABA-A | Artificial Intelligence (AI)-driven Drug Repurposing for Rare
DESCRIPTION:Aleksandra Foksinska\, Program Manager\, and Alexandria Howard\, Case Analyst at UAB Hugh Kaul Precision Medicine Institute\, research AI-driven\n\n\nAleksandra Foksinska and Alexandria Howard will both discuss Artificial Intelligence (AI)-driven Drug Repurposing for Rare Disease. \nAleksandra Foksinska is the Program Manager at the UAB Hugh Kaul Precision Medicine Institute. Her background is in Molecular Biology (BS) and Biomedical Sciences (MS) from the University of Alabama at Birmingham. Aleksandra’s research interests include identifying drug repurposing candidates for rare genetic disorders using AI. Aleksandra also serves as a project coordinator for the UAB Center for Precision Animal Modeling\, as well as a committee member for the Undiagnosed Diseases Network Therapeutic Matching Committee. \nAlexandria Howard is a Case Analyst at the UAB Hugh Kaul Precision Medicine Institute. She is currently approaching her senior year at the University of Alabama at Birmingham with a double major in Genetics/Genomic Sciences and Neuroscience and a minor in Chemistry. Alexandria’s research interests include investigating various rare genetic disorders and identifying drug repurposing candidates using AI.
URL:https://curegabaa.org/event/cure-gaba-a-artificial-intelligence-ai-driven-drug-repurposing-for-rare/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/06/71125d09bbf5aa52e477b4e421030c69-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240529T100000
DTEND;TZID=America/Los_Angeles:20240529T110000
DTSTAMP:20260407T053000
CREATED:20240526T073209Z
LAST-MODIFIED:20240528T072840Z
UID:2998-1716976800-1716980400@curegabaa.org
SUMMARY:Cure GABA-A | Dr. Ortiz Community Update Meeting
DESCRIPTION:We invite you to a special presentation that will NOT be recorded. Dr. Ortiz will discuss three key points for our community.\n\n\nWe 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: \n \n1. The preliminary results of the antiseizure medication survey completed by our community. \n(https://filadelfia-science.dk/surveys/?s=TEX9JXNK3CPWTNA4) \n \n2. An explanation of the Sleep Disturbance Scale for our children. \n \n3. The GABAAR Movement Disorders clinical video proposal featuring the MyDystonia electronic diary. \n \nWe hope to see you all there.
URL:https://curegabaa.org/event/cure-gaba-a-dr-ortiz-community-update-meeting/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/05/e678b4aa2c9d7883d74f72279b0f50a1-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240528T110000
DTEND;TZID=America/Los_Angeles:20240528T120000
DTSTAMP:20260407T053000
CREATED:20240526T073155Z
LAST-MODIFIED:20240528T072840Z
UID:2994-1716894000-1716897600@curegabaa.org
SUMMARY:Cure GABA-A | What do we need to know about Gain of Function GABAAR
DESCRIPTION:What do we need to know about Gain of Function GABAA receptor variants?\n\n\nUnderstanding Gain of Function GABAA Receptor Variants\nGABAA Receptor Variants | Research Insights Session | Dr. Lidong Liu \nJoin 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 Brain Health. \nDr. Liu\, in collaboration with Dr. Yu Tian Wang\, focuses on the molecular mechanisms of synaptic function and plasticity\, particularly under conditions of health and disease. This session will describe GABAA receptor variants and their implications for epilepsy. \nThese groundbreaking insights are crucial for developing better treatments for conditions like epilepsy. Dr. Liu’s work highlights the dynamic interplay between neurotransmitter systems and offers new avenues for therapeutic intervention. \nEvent Details: \n\nDate: 5/28/2024\nTime: 11am PDT\n\nIf you cannot attend in person\, don’t worry—the session will be recorded and available on our YouTube channel. \nJoin us to learn from Dr. Liu’s expertise and contribute to our shared mission of improving the lives of patients with GABAA receptor variants. \nProject Overview: \n\nGABAA Receptor Study: This project focuses on understanding GABAA receptors.\nInitial Discovery: The first GABRA1 variant (A322D) was identified in epilepsy patients about 20 years ago.\nRecent Work: Recently\, more variants have been characterized\, and some repurposed drugs have been tested on these variants based on requests from doctors and patients’ families.\n\nKey Discoveries: \n\nGlutamate and GABAA Receptor Crosstalk:\nSignificance: There is an important interaction between glutamate and GABAA receptors.\nMechanism: Glutamate can bind to and enhance GABAA receptors to balance out the overexcitation caused by glutamate receptors.\nResearch Model: Mice with mutations in the glutamate binding site of GABAA receptors showed increased neuronal excitability\, seizure susceptibility\, and autism-like behaviors.\nNetrin-1’s Role:\nFunction: Netrin-1\, a molecule that guides axons\, is secreted during high neuronal activity.\nEffect: It binds to GABAA receptors and increases their function\, helping to balance synaptic activity by enhancing the conductance of these channels.
URL:https://curegabaa.org/event/cure-gaba-a-what-do-we-need-to-know-about-gain-of-function-gabaar/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/05/f1d24b9620acb6390d5f7155e6ff2514-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240423T110000
DTEND;TZID=America/Los_Angeles:20240423T120000
DTSTAMP:20260407T053000
CREATED:20240404T101548Z
LAST-MODIFIED:20240422T173137Z
UID:2906-1713870000-1713873600@curegabaa.org
SUMMARY:Cure GABA-A | The Role of GABA During Development
DESCRIPTION:His research delves into rare genetic epilepsies associated with specific gene mutations\, utilizing advanced techniques such as brain slice\n\n\nFamily Presentation with Dr. Kirill Zavalin\n \nCure GABA-A | The Role of GABA During Development \n \nJoin us for an informative meet and greet session with Dr. Kirill Zavalin\, a dedicated postdoctoral fellow at Vanderbilt University Medical Center. Dr. Zavalin specializes in genetic epilepsy and brain development\, with a particular focus on GABAergic neurotransmission. His research delves into rare genetic epilepsies associated with specific gene mutations\, utilizing advanced techniques such as brain slice electrophysiology and molecular biology. \n \nDr. Zavalin’s expertise and passion lie in unraveling the complexities of epilepsy\, aiming to contribute to the advancement of biomedical neuroscience research. With a wealth of experience in academic writing\, presentations\, teaching\, and collaboration\, Dr. Zavalin is well-equipped to make significant strides in epilepsy studies and improve patient outcomes. \n \nJoin Cure GABA-A and Dr. Kirill Zavalin on April 15th\, 2024 11:00am PT for an engaging and insightful session. For more details\, contact us on our socials or email: info@curegabaa.org \n \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \n \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-the-role-of-gaba-during-development/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/04/b00e994bbb3041948149a2b9bee98427.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240422T110000
DTEND;TZID=America/Los_Angeles:20240422T120000
DTSTAMP:20260407T053000
CREATED:20240127T054501Z
LAST-MODIFIED:20240422T173137Z
UID:2096-1713783600-1713787200@curegabaa.org
SUMMARY:Cure GABA-A | Recommended Physician Meet and Greet | Dr. Juliet Knowles
DESCRIPTION:Dr. Juliet Knowles is a Cure GABA-A recommended physician at Standford Medicine\n\n\nCure GABA-A | Recommended Physician Meet and Greet | Dr. Juliet Knowles \nJoin us for an educational session with Dr. Juliet Knowles\, MD\, PhD\, Cure GABA-A’s Recommended Physicians at Stanford University. \nDr. Juliet Knowles will provide valuable insights into the clinical presentation of GABR Variants and the latest advancements in current treatments. As a distinguished researcher\, Dr. Knowles leads a dynamic lab at Stanford focusing on the mechanisms underlying pediatric epilepsy. Her research group is particularly interested in understanding generalized epilepsies\, monogenic epilepsies\, and developmental and epileptic encephalopathies. Notably\, her lab recently uncovered an unexpected contribution of activity-dependent myelination to the progression of generalized epilepsy (J.K. Knowles et al\, Nature Neuroscience\, 2022). \nCurrently\, the Knowles lab is investigating whether similar mechanisms are at play in various forms of genetic epilepsy\, including GABA-A related epilepsy. Dr. Knowles\, in addition to her research role\, is a dedicated clinician providing specialty care for children with genetic and challenging-to-treat forms of epilepsy\, making her a highly recommended physician in this field. \nJoin Cure GABA-A and Dr. Juliet Knowles on 4/22/2024 at 11am PST for an educational and insightful session. \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-recommended-physician-meet-and-greet-dr-juliet-knowles/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/a99e88015b958556f016733734f6de3e-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/New_York:20240404T090000
DTEND;TZID=America/New_York:20240405T170000
DTSTAMP:20260407T053000
CREATED:20240228T182035Z
LAST-MODIFIED:20240405T173628Z
UID:2633-1712221200-1712336400@curegabaa.org
SUMMARY:On Site Bio Collection | CombinedBrain
DESCRIPTION:CombinedBrain will do an onsite bio sample collection\n\n\nCombinedBrain will be collecting BioSamples from patients with genetic mutations. \nThis is an opportunity for our Cure GABA-A community to donate their bio samples. \nLearn More \nWhat does this mean? Why is this important? \nPlease watch this video below:
URL:https://curegabaa.org/event/on-site-bio-collection-combinedbrain/
LOCATION:Embassy Suites by Hilton Orlando Lake Buena Vista Resort\, 8100 Lake Street\, Orlando\, FL\, 32836\, United States
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/02/3c864a3aced69b5753ceb0d6374bd62e.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240322T100000
DTEND;TZID=America/Los_Angeles:20240322T110000
DTSTAMP:20260407T053000
CREATED:20240321T025902Z
LAST-MODIFIED:20240322T025934Z
UID:2815-1711101600-1711105200@curegabaa.org
SUMMARY:Cure GABA-A | Understanding GABA-A and its Relationship to Epilepsy
DESCRIPTION:Dr. Michael Rogawski\, from UC Davis Health\, will help us understand GABA-A and its relationship to epilepsy\n\n\nJoin us for an educational session with Dr. Michael Rogawski. \nDr. Michael Rogawski\, a professor and physician at UC Davis Health\, will help us understand GABA-A and its relationship to Epilepsy. \nDr. Rogawski has been elected a fellow of the National Academy of Inventors (NAI)\, the highest professional distinction for academic inventors. His inventions in drug discovery and development\, particularly in the field of neuropharmacology\, have led to significant advancements in treating epilepsy and neuropsychiatric conditions. \nDr. Rogawski’s election as an NAI fellow recognizes his prolific spirit of innovation and contributions to improving the quality of life through groundbreaking inventions. Notable achievements include the development of epilepsy drug perampanel (Fycompa®) and brexanolone (Zulresso™)\, the first FDA-approved drug for postpartum depression. His work reflects a dedication to translational research and collaboration within the scientific community. \nJoin Cure GABA-A and Dr. Michael Rogawski on March 22\, 2024 10:00 AM PDT for an educational session. For more details\, contact us on our socials or email: monica@cureGABAa.com. \nCan’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our collective mission to improve the lives of patients with GABA-A Variants and work toward a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-understanding-gaba-a-and-its-relationship-to-epilepsy/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/03/9ea401c2d4d67dc4f2f23103cd8b4a5d-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240312T110000
DTEND;TZID=America/Los_Angeles:20240312T120000
DTSTAMP:20260407T053000
CREATED:20240127T054411Z
LAST-MODIFIED:20240311T195920Z
UID:2059-1710241200-1710244800@curegabaa.org
SUMMARY:Cure GABA-A | Understanding the benefits of a Natural History Study
DESCRIPTION:Join us for an engaging online session where we’ll explore the advantages of a Natural Historical Study\n\n\nCure GABA-A | Educational Session with Q&A | Understanding the benefits to patients of a Natural History Study \nEvent Description: Join us for an informative online session on GABA-A\, where we will delve into the benefits a Natural History Study offers to patients. Our expert Dr. Rikke Steensbjerre Møller will provide insights on the natural history of GABA-A and how it can be a game-changer in patient care.  \nGet ready to have your questions answered during the interactive Q&A session.  \nDr. Rikke Steensbjerre Moller leads the dedicated team at the Danish Epilepsy Centre\, the primary focus is enhancing the diagnosis process for individuals with severe genetic epilepsy through advanced genetic testing. \nCommitted to fostering awareness about genetic epilepsies\, they recognize the profound impact of natural history in genetic epilepsies. \nDr. Moller and her team strive to deepen their understanding of the correlations between genetic factors and clinical symptoms\, all while actively seeking out innovative treatment options. \n \nCure GABA-A has invited all of our friends to join an educational session with Dr. Rikke Steensbjerre Møller January 29th\, 2023 10am PDT. For more details contact us on our socials or email: monica@cureGABAa.com\n \nCan’t make it in person? Don’t worry –This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nwww.youtube.com/@CureGABAa \n \nJoin Cure GABA-A in this collective mission to improve the lives of patients with GABA-A Variants work toward a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-understanding-the-benefits-of-a-natural-history-study/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/ccd8217ce4c48a656e83e476b8e181a6.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240227T120000
DTEND;TZID=America/Los_Angeles:20240227T130000
DTSTAMP:20260407T053000
CREATED:20240127T054440Z
LAST-MODIFIED:20240226T211341Z
UID:2080-1709035200-1709038800@curegabaa.org
SUMMARY:Cure GABA-A | GoF: Discussion on Compounds; Which Ones Work\, Don't & Why?
DESCRIPTION:Dr. Michael Rogawski\, from UC Davis Health\, will explain the Clinical presentation of GABR Variants and current treatments\n\n\nJoin us for an educational session with Dr. Michael Rogawski. \nDr. Michael Rogawski\, a professor and physician at UC Davis Health\, will explain the Clinical presentation of GABR Variants and current treatments. \nHe has been elected a fellow of the National Academy of Inventors (NAI)\, the highest professional distinction for academic inventors. His inventions in drug discovery and development\, particularly in the field of neuropharmacology\, have led to significant advancements in treating epilepsy and neuropsychiatric conditions. \nDr. Rogawski’s election as an NAI fellow recognizes his prolific spirit of innovation and contributions to improving the quality of life through groundbreaking inventions. Notable achievements include the development of epilepsy drug perampanel (Fycompa®) and brexanolone (Zulresso™)\, the first FDA-approved drug for postpartum depression. His work reflects a dedication to translational research and collaboration within the scientific community. \nJoin Cure GABA-A and Dr. Michael Rogawski on Feb 27\, 2024 12:00 PM PST for an educational session. For more details\, contact us on our socials or email: monica@cureGABAa.com. \nCan’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our collective mission to improve the lives of patients with GABA-A Variants and work toward a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-webinar-clinical-presentation-of-gabr-variants-and-current/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/909be920dac8b8fc6a520c5baeb4ceee-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240220T130000
DTEND;TZID=America/Los_Angeles:20240220T140000
DTSTAMP:20260407T053000
CREATED:20240217T030104Z
LAST-MODIFIED:20240220T033004Z
UID:2555-1708434000-1708437600@curegabaa.org
SUMMARY:Cure GABA-A | Motor Cortex Measures of Cortical Inhibition
DESCRIPTION:Motor Cortex Measures of Cortical Inhibition: What the motor system can tell us about the rest of the brain.\n\n\nCure GABA-A | Educational Session with Q&A | Phenotypic manifestations observed in individuals with GABAAR Variants \nJoin us for an educational session with Dr. Alexander Rotenberg. \nDr. Alexander Rotenberg is a prominent neurologist and epileptologist\, serving as the Director of the Neuromodulation Program within the Department of Neurology. He has received recognition for his work\, including the 2016 Dreifuss-Penry Epilepsy Award from the American Academy of Neurology and presidency of the Greater Boston Epilepsy Society in 2015-2016. \nDr. Rotenberg leads efforts to adapt noninvasive brain stimulation techniques like TMS and DCS for pediatric epilepsy patients\, while also overseeing basic science experiments exploring their translational applications in epilepsy and traumatic brain injury models. His ongoing research includes clinical trials testing the efficacy of brain stimulation in drug-resistant seizures\, studies on human brain plasticity in autism. \nJoin Cure GABA-A and Dr. Alexander Rotenberg on February 20th\, 2024\, at 1:00 PM PST for an educational session. For more details\, contact us on our socials or email: monica@cureGABAa.com. \nCan’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nJoin Cure GABA-A in this collective mission to improve the lives of patients with GABA-A Variants work toward a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-motor-cortex-measures-of-cortical-inhibition/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/02/1c0f171241b4551fd532a6ecab5e9280-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240220T110000
DTEND;TZID=America/Los_Angeles:20240220T120000
DTSTAMP:20260407T053000
CREATED:20240127T054455Z
LAST-MODIFIED:20240220T033004Z
UID:2092-1708426800-1708430400@curegabaa.org
SUMMARY:Cure GABA-A | Phenotypic Manifestations Observed in Individuals with GABAAR
DESCRIPTION:Gain insights and understanding into the impact of these variants on distinct traits.\n\n\nCure GABA-A | Educational Session with Q&A | Phenotypic manifestations observed in individuals with GABAAR Variants \nJoin us for an educational session with Dr. Sebastian Ortiz. \nDr. Sebastian Ortiz is presently engaged in a comprehensive examination of the phenotypic manifestations observed in individuals possessing GABAAR variants. His aim is to enhance comprehension of the intricate networks and systems implicated in the pathophysiology of these disorders. Additionally\, he endeavors to equip clinicians with tools facilitating the early identification of these disorders. \nDr. Sebastian Ortiz is actively engaged in international epilepsy communities\, serving as the Chair of the Young Epilepsy Section from International League Against Epilepsy (ILAE) from September 2023 to September 2025. His contributions to various international congresses\, including the International Epilepsy Congress and Latin American Epilepsy Congress\, reflect his dedication to advancing knowledge in his field. \nA multilingual professional\, Sebastian is fluent in Portuguese\, Spanish\, English\, and has a basic proficiency in French and Danish. He is a member of prestigious associations such as the Danish Epilepsy Society\, International League Against Epilepsy (ILAE)\, American Academy of Clinical Neurophysiology. \n \nJoin Cure GABA-A and Dr. Sebastian Ortiz on February 20th\, 2024\, at 11:00 AM PST for an educational session. For more details\, contact us on our socials or email: monica@cureGABAa.com. \nCan’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our collective mission to improve t
URL:https://curegabaa.org/event/cure-gaba-a-phenotypic-manifestations-observed-in-individuals-with-gabaar/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/c90168e36844c5133d1ae92f965e573f-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240215T084500
DTEND;TZID=America/Los_Angeles:20240215T094500
DTSTAMP:20260407T053000
CREATED:20240127T054449Z
LAST-MODIFIED:20240214T204442Z
UID:2088-1707986700-1707990300@curegabaa.org
SUMMARY:Cure GABA-A | Basic Genetic Concepts | Laina Lusk
DESCRIPTION:Join us for an enlightening session with Dr. Laina Lusk\, a dedicated genetic counselor in the division of neurology at CHOP\n\n\nFamily Presentation with Laina Lusk \nCure GABA-A | Webinar | Insights from a Genetic Counselor: Childhood Epilepsy and Neurodevelopmental Disorders \nJoin us for an enlightening session with Laina Lusk\, a dedicated genetic counselor in the division of neurology at the Children’s Hospital of Philadelphia (CHOP). \nLaina Lusk’s research interest lies in unraveling the genetic mechanisms and clinical phenotypes associated with childhood epilepsy and related neurodevelopmental disorders. Armed with a BS in neuroscience from Bucknell University and an MMSc in human genetics and genetic counseling from Emory University\, she brings a wealth of knowledge to her role. \nWith prior clinical experience as a cancer genetic counselor and a background in neurodevelopmental disorders research\, Laina plays a crucial role in the Helbig Lab. As a clinical liaison\, she actively contributes to phenotyping projects\, furthering our understanding of these complex conditions. \nJoin Cure GABA-A and Laina on 2/15 at 8:45am PST for an insightful exploration of childhood epilepsy and neurodevelopmental disorders from a genetic counselor’s perspective. For more details\, contact us on our socials or email: info@curegabaa.org \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-basic-genetic-concepts-dr-laina-lusk/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/912a8599b961d2012f0536301847b65a-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240215T084500
DTEND;TZID=America/Los_Angeles:20240215T094500
DTSTAMP:20260407T053000
CREATED:20240127T054445Z
LAST-MODIFIED:20240214T204442Z
UID:2084-1707986700-1707990300@curegabaa.org
SUMMARY:Cure GABA-A | Recommended Physician Meet and Greet | Dr. Pamela Pojomovsky
DESCRIPTION:Dr. Pamela Pojomovsky McDonnell\, MD\, pediatric neurologist\, Cure GABA-A’s Recommended Physicians at Children’s Hospital of Philadelphia.\n\n\nJoin us for an educational session with Dr. Pamela Pojomovsky McDonnell\, MD\, pediatric neurologist\, Cure GABA-A’s Recommended Physicians at Children’s Hospital of Philadelphia. \nPamela Pojomovsky McDonnell\, MD\, is a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). She specializes in helping children with epilepsy. Dr. McDonnell had a personal reason for choosing her specialty. \n“My sister had epilepsy when she was a child\, which made me want to help children and families with neurologic conditions\,” she says. “I later developed an interest in science and particularly in how the brain works.” She notes that although epilepsy affects just 1% of the population\, it’s morbidity is quite high. Fortunately\, many tools are available to help control the disorder. A native of Argentina\, Dr. McDonnell enjoys working with Spanish speakers who may otherwise have trouble accessing appropriate care due to language barriers. Along with her clinical work\, she is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania. \nDr. McDonnell is enthusiastic about new developments in genetics that may one day allow doctors to predict the course of epilepsy and target treatments accordingly. She is a member of the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP)\, where she evalutes all children with neurodevelopmental disorders with or without epilepsy but she has a specific focus in children with pathogenic variants in the SLC6A1 gene and works closely with the SLC6A1 Connect group. \nWhen caring for children\, Dr. McDonnell is reminded of her sister and the comfort of knowing medical professionals were helping to manage her epilepsy. “I am always inspired by the doctors that helped our family\,” she says. “And as your doctor\, I care about your child and your family as if they were my own. I hope that is an experience that can be taken from every visit at CHOP.” \nJoin Cure GABA-A and Dr. Pamela Pojomovsky McDonnell on 2/15 at 8:45-9:45 PST for an educational and insightful session. \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-recommended-physician-meet-and-greet-dr-pamela-pojomovsky/
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ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240213T130000
DTEND;TZID=America/Los_Angeles:20240213T140000
DTSTAMP:20260407T053000
CREATED:20240210T183002Z
LAST-MODIFIED:20240210T183002Z
UID:2404-1707829200-1707832800@curegabaa.org
SUMMARY:Cure GABA-A | What is Project FIND-OUT with Elizabeth Rountree
DESCRIPTION:The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders\n\n\nFor Families Project FIND-OUT \n \nThe overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States. \nFamilies who participate will receive the following free services: \n\nMeet with a genetic counselor\nReport with your child’s genetic testing results\nConnect with a specialist\, who can help you understand next steps and potential treatment options\nParticipate in research\n\nBy participating in Project FIND-OUT\, you will contribute to an important research study on the value of genetic testing. We hope this study will lead to the development of guidelines for physicians and health insurance companies. Having guidelines may make it easier for other families to get genetic testing in the future and a genetic diagnosis in the future. Lastly\, getting children diagnosed earlier will speed up access to new treatment options
URL:https://curegabaa.org/event/cure-gaba-a-what-is-project-find-out-with-elizabeth-rountree-2/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/02/d1adc8e3e09df41f8bec0203f8dae9bc-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240213T130000
DTEND;TZID=America/Los_Angeles:20240213T140000
DTSTAMP:20260407T053000
CREATED:20240210T183001Z
LAST-MODIFIED:20240213T020148Z
UID:2403-1707829200-1707832800@curegabaa.org
SUMMARY:Cure GABA-A | What is Project FIND-OUT with Elizabeth Rountree
DESCRIPTION:The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders\n\n\nFor Families Project FIND-OUT \n \nThe overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States. \nFamilies who participate will receive the following free services: \n\nMeet with a genetic counselor\nReport with your child’s genetic testing results\nConnect with a specialist\, who can help you understand next steps and potential treatment options\nParticipate in research\n\nBy participating in Project FIND-OUT\, you will contribute to an important research study on the value of genetic testing. We hope this study will lead to the development of guidelines for physicians and health insurance companies. Having guidelines may make it easier for other families to get genetic testing in the future and a genetic diagnosis in the future. Lastly\, getting children diagnosed earlier will speed up access to new treatment options
URL:https://curegabaa.org/event/cure-gaba-a-what-is-project-find-out-with-elizabeth-rountree/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/02/d1adc8e3e09df41f8bec0203f8dae9bc.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240209T100000
DTEND;TZID=America/Los_Angeles:20240209T110000
DTSTAMP:20260407T053000
CREATED:20240127T054435Z
LAST-MODIFIED:20240208T192002Z
UID:2076-1707472800-1707476400@curegabaa.org
SUMMARY:Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez
DESCRIPTION:Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez Gomez\n\n\nJoin us for an educational meet and greet session with Dr. Andres Jimenez Gomez\, MD\, a Colombian-born physician with triple board certification in Pediatrics (Cincinnati Children’s Hospital)\, Pediatric Neurology\, and Neurodevelopmental Disabilities (Texas Children’s Hospital). \nDr. Jimenez Gomez is currently the director of the Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital in South Florida. He is deeply invested in the care of children with neurogenetic and neurodevelopmental conditions\, particularly Developmental and Epileptic Encephalopathies. His established clinical care and research trajectory focus on expanding awareness\, standardizing diagnosis and care\, and increasing education and awareness in the medical community about such conditions\, with a special emphasis on Latin America and the predominantly Spanish-speaking population in the US. \nOur NDD Program: The Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital\, directed by Dr. Jimenez Gomez\, provides comprehensive\, state-of-the-art\, innovative\, and humanistic care for children and young adults with neurodevelopmental disorders. The program offers multidisciplinary and comprehensive evaluations\, incorporating elements of evidence-based care and complementary\, holistic\, patient- and family-centered practices unique to the region. Comprehensive developmental evaluations for autism\, a multidisciplinary complex neurodevelopment/complex autism clinic\, a multidisciplinary neuro-behavioral clinic\, and a Developmental and Epileptic Encephalopathies (Genetic Epilepsies) clinic are among the services provided. The program actively participates in national clinical trials\, offers Autism support groups\, maintains a resource database\, and provides an in-house network of therapists. \nOur DEE Program: The Developmental and Epileptic Encephalopathies Clinic at Joe DiMaggio Children’s Hospital\, under the leadership of Dr. Jimenez Gomez\, provides comprehensive and multidisciplinary care for children and young adults with difficult-to-control epilepsy and associated developmental impairments such as developmental delay and autism. Full evaluations are conducted by board-certified pediatric epileptologists and a neurodevelopmental neurologist\, alongside a pediatric geneticist\, a neuropsychologist\, and other advanced practice providers. The clinic offers services in epilepsy care as well as development and behavior\, support in genetic consultation for resolution/analysis of Variants of Uncertain Significance (VUS)\, and referral when necessary for consultation for advanced epilepsy care\, including ketogenic diet clinic and possible surgical interventions. The program also offers participation in clinical trials in the field. \nJoin Cure GABA-A and Dr. Andres Jimenez Gomez on 2/19/2024 10:00 AM PST for an educational and insightful session. For more details\, contact us on our socials or email: info@curegabaa.org \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-recommended-physician-meet-and-greet-with-dr-andres-jimenez/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/7b863bc9422018ccef77395615212e9a-1.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240208T110000
DTEND;TZID=America/Los_Angeles:20240208T120000
DTSTAMP:20260407T053000
CREATED:20240127T054428Z
LAST-MODIFIED:20240208T192002Z
UID:2072-1707390000-1707393600@curegabaa.org
SUMMARY:Cure GABA-A | Dr. Henry Lee |  Understanding of GABAergic Signaling
DESCRIPTION:Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter\n\n\nCure GABA-A | Webinar | Understanding of GABAergic Signaling \nJoin us for an educational session with Dr. Henry Lee. \nDr. Henry Lee is a molecular neurobiologist with a specialized interest in comprehending the molecular processes governing neuronal inhibition\, brain plasticity\, and functional recovery within the context of brain development and trauma. Through the integration of molecular biology and electrophysiology techniques\, Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter KCC2 in controlling Cl- mediated GABAergic inhibition (Lee et al.\, Nat Neurosci\, 2011). Employing innovative genetic mouse models\, he further investigated a paracrine signaling mechanism crucial for critical period (CP) plasticity control (Spatazza\, Lee et al.\, Cell Rep\, 2013; Lee et al.\, Mol Psychiatry\, 2017). \nDr. Lee’s translational research extends to the realm of functional recovery post-nerve damage (Bei\, Lee et al.\, Cell\, 2016) and traumatic brain injury (Hsieh\, Lee et al.\, Cerebral Cortex\, 2016). His recent focus centers on SSADH deficiency\, a rare inborn GABA metabolic disorder. Dr. Lee is actively engaged in the development of a specialized mouse tool for SSADH\, allowing ‘on-demand’ SSADH restoration. This endeavor is directed towards contributing to the preclinical advancement of innovative therapies for SSADH deficiency. \nJoin Cure GABA-A and Dr. Henry Lee on February 8th\, 2024\, at 11:00 PM PST for an educational session. For more details\, contact us on our socials or email: monica@cureGABAa.com. \nCan’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our collective mission to improve the lives of patients with GABA-A Variants and work toward a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-dr-henry-lee-understanding-of-gabaergic-signaling/
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ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240205T110000
DTEND;TZID=America/Los_Angeles:20240205T120000
DTSTAMP:20260407T053000
CREATED:20240127T054422Z
LAST-MODIFIED:20240205T051057Z
UID:2068-1707130800-1707134400@curegabaa.org
SUMMARY:Cure GABA-A | Educational Session | Importance of overnight EEG monitoring
DESCRIPTION:The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment\n\n\nJoin us as Brad Levy from EEG2GO\, will share his incredible journey into the world of epilepsy and discuss “The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment.” \nIn 2005\, Brad had no prior medical experience until his daughter’s sudden onset seizures and epilepsy diagnosis. He founded the Epilepsy Awareness Day at Disneyland\, which has grown into a significant annual event. This year’s event expected participation from around 100 epilepsy support groups and 2\,000 individuals. \nDriven by his passion for the Autism community\, Brad took on the challenge of creating an ideal EEG equipment and protocol in collaboration with Lifelines Neurodiagnostics and Dr. David Millett in 2015. He actively seeks out well-trained epilepsy specialists to enhance their referral network and speaking roster at the EAD Expo. \nToday\, Brad’s service offers patients an alternative to hospitals and inpatient EEG services\, focusing on comfort and data collection efficiency. \nJoin us as Brad highlights the importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment. \nCan’t attend in person? No problem! This session will be recorded and available on our Cure GABA-A YouTube channel for your convenience. \nJoin us in our collective mission to improve the lives of patients with GABA-A Variants and work towards a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-educational-session-importance-of-overnight-eeg-monitoring/
ATTACH;FMTTYPE=image/jpeg:https://curegabaa.org/wp-content/uploads/2024/01/ef94040e6e3257946817e0ad122de954.jpg
ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
END:VEVENT
BEGIN:VEVENT
DTSTART;TZID=America/Los_Angeles:20240129T100000
DTEND;TZID=America/Los_Angeles:20240129T110000
DTSTAMP:20260407T053000
CREATED:20240127T054416Z
LAST-MODIFIED:20240129T171220Z
UID:2064-1706522400-1706526000@curegabaa.org
SUMMARY:Cure GABA-A | Family Presentation with Dr. Nazanin Azarinejad Mohammadi
DESCRIPTION:Unraveling GOF vs LOF GABRB2 Disease: Insights from Dr. Mohammadi’s Research\n\n\nJoin us for an educational session with Dr. Nazanin Azarinejad Mohammadi\, who recently defended her PhD thesis entitled “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” on 18.01.2024. \nUnder the guidance of Prof. Rikke S. Møller and Assoc. Prof. Philip K. Ahring\, Dr. Mohammadi’s groundbreaking research has unraveled the complexities of GOF (gain-of-function) vs LOF (loss-of-function) GABRB2 disease. \nIn her studies\, Dr. Mohammadi demonstrated\, for the first time\, that GABRB2 variants can lead to both GOF and LOF GABAA receptors\, with the associated phenotypes strongly linked to the functional outcome. Notably\, patients in the GOF group exhibited more severe phenotypes than those in the LOF group. \nAdditionally\, the research revealed that M1 proline substitutions in GABRA1\, GABRB2\, GABRB3\, or GABRG2 all result in GOF receptors\, indicating a subunit-independent functional effect. Patients with these variants displayed similar severe phenotypes\, aligning with their receptor function. \nDr. Mohammadi’s groundbreaking findings shed light on the intricate nature of genetic variants in the GABAA receptor\, showing their association with severe epilepsy and their ability to either decrease or increase the GABA sensitivity of the receptor. This discovery not only enhances genetic counseling for patients but also lays the foundation for the development of personalized treatment strategies. \nJoin Cure GABA-A and Dr. Nazanin Azarinejad Mohammadi on 1/29/2024 at 10:00am PST for an insightful exploration of GOF vs LOF GABRB2 disease. For more details\, contact us on our socials or email: . \nIf you are unable to attend in person\, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience. \n \nJoin us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
URL:https://curegabaa.org/event/cure-gaba-a-family-presentation-with-dr-nazanin-azarinejad-mohammadi/
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ORGANIZER;CN="CURE GABA-A":MAILTO:info@curegabaa.org
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