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Publication alert 📢 Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a #GABRA1 LOF variant ‼️ From intractable #epilepsy to seizure freedom‼️ #PrecisionMedicine Katrine M Johannesen Vivian li @Philip_K_Ahring Mary Chebib onlinelibrary.wiley.com/doi/full/10.10…

We are looking to unite individuals with #GABA-A disorders across the globe: #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG2 #GABRD #GABRQ. Visit our website and we can help you connect with others! gabaa.org

Automated patch clamp was originally developed for the pharmaceutical industry, but Thompson et al. repurpose it to investigate functional properties of several sodium channel variants associated with neurodevelopmental disorders bit.ly/47xrSCz #SCN2A #epilepsy

Delighted to share this out today in Lancet Neurology! Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study - thelancet.com/journals/laneu…

Research led by the Institute's Dr Charles Cox published today in Science Magazine identifies a critical molecule which could lead to the development of future drugs for obesity, osteoporosis, and inflammatory diseases: victorchang.edu.au/news/piezo #mechanobiology #ScienceTwitter

Publication alert 📢 #GABRA1-related disorders: from genetic to functional pathways. We expand the genetic and phenotypic spectrum and delineate specific sub-phenotypes for LoF and GoF variants. Fantastic 🇩🇰🇦🇺🇮🇹 teamwork ‼️ Elena Gardella @Philip_K_Ahring onlinelibrary.wiley.com/doi/abs/10.100…

Glad to see the new publication for #GABRA1, a gene which is part of our GABA-A Alliance community! #epilepsy Scarlett's GABRA1 Village

The role of ion channels in T cell function and disease frontiersin.org/articles/10.33…

Publication alert 📢 Correlations of receptor desensitization of gain-of-function #GABRB3 variants with clinical severity ‼️ 🇦🇺🇩🇰 teamwork💪 #Epilepsy💜 Susan Lin Angelo Keramidas @Philip_K_Ahring Vivian Liao Dr Nathan Absalom 👏Lundbeckfonden 🙏 academic.oup.com/brain/advance-…

"Our warrior angel Zayden. He survived 4 and half years battling GABRB2, before he could not fight it anymore. Loved and missed every single day." Visit gabaa.org for more information on GABA-A Receptor Related Disorders. #epilepsy #GABRB2

A really original genetic study of its kind, presented by Katrine M Johannesen, shows the broad phenotypic spectrum of GABRA3 related disorders can be explained by sex and function effect of the #GABRA3 variants. International League Against Epilepsy #ILAE #IEC2023 Rikke S. Møller @Philip_K_Ahring

Join us in supporting Beau (3), Keltie (7) and Harper (6) all with #GABRG2 deletion. Ranging from febrile seizures only to mild epilepsy to frequent seizures/types and delays, all within the same family. gabaa.org/donate #epilepsy

How to we predict whether GABA receptor variants are pathogenic and loss or gain of function? Follow the allosteric transitions, we argue in our latest letter to Brain. Thanks to our talented postdoc Serene El-Kamand, Chow and @Philip_K_Ahring, academic.oup.com/brain/advance-…

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Cure GABA A #StrongerTogether 💜#RareDiseaseDay2024 🦓 #GABAAReceptorAwareness 🧠🧬 #Epilepsy Sebastian Ortiz, MD Leonardo Affronte The Reid Lab (Florey) Mary Chebib @Philip_K_Ahring @LabPerrier Vivian Liao Dr Nathan Absalom Alessandra Rossi Susan Lin Anthony Kan (Sze Hon) youtube.com/watch?v=bguUQh…

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Publication alert 📢 Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function #GABRB2 variants ‼️ Excellent work by Nazanin Azarinejad Mohammadi @Philip_K_Ahring Dr Nathan Absalom & many more 👏 #Epilepsy Cure GABA A GABA A Alliance thelancet.com/journals/ebiom…

What happens if you have a GABAA receptor variant and clinical phenotype that doesn't quite fit into loss and gain of function? Our latest eBiomedicine paper by the awesome PhD student Nazanin Azarinejad Mohammadi and Rikke S. Møller can tell you why! sciencedirect.com/science/articl…