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A fruitful international collaboration about #Morbidgene #ANKRD11 and natural history of #KBG syndrome is now published in Genetics in Medicine👇 Karen Low Tika Tkemaladze KBG Syndrome KBG Foundation Rare Disease UK Rare Diseases Beacon for Rare Diseases EURORDIS-Rare Diseases Europe #genetic #epilepsy #aorta #NaturalHistory

I am incredibly honored to have received an award from the CureGRIN foundation. This recognition means the world to me, as it represents strength, resilience, & hope ‼️ Working alongside such dedicated individuals & families has been a profound journey ‼️ #Teamwork #Genetics

🔊🔊 Such a cool, fun chat with epileptologist Jon Kleen 🤩! Jon, from @ucsfhospitals Medical Center 🇺🇸 speaks about his career focus on the cognitive function issues 😣 that soooo often comes along as part of epilepsy and how they must be recognised and addressed!! Check out our

🥳 Woohoo! Podcast! I’m delighted to share news from neuroscientist Nazanin Azarinejad Mohammadi 🥳 who explains to us the wild complexities of even just one genetic 🧬 epilepsy 🧠⚡️! In her thesis Nazanin proved that one genetic mutation can cause vastly different symptoms in different

We have a new page 👇🏻 on the Epilepsy Sparks website 🥳🔗, dedicated to medical/science conferences on the epilepsies 🧠⚡️🧬! Our first is of the Dianalund International Conference on #Epilepsy (DICE) 🇩🇰! This year we had our 6th DICE and are already excited about the 7th in

The 15th European Epilepsy Conference in Rome will kick-off September 7th‼️ Interested in #epilepsy #genetics? Then don't miss some of our 3 talks about 👇 1) impact of genetic testing on treatment 2) #GRIA3 related disorders 3) natural history of #KBG syndrome International League Against Epilepsy

The European Epilepsy Congress #EEC2024 starts today in Rome. Can't wait to be the warm-up act before the amazing AGE Program - Adult Genetic Epilespy in a session about impact of genetic testing in children & adults w. #epilepsy👇 #Genetics #PrecisionMedicine International League Against Epilepsy EpiCARE Torie Robinson 🇺🇦

Today I'm wearing lucky EpiCARE 🧦 at #EEC2024 & look forward to present data on adults with #KBG syndrome while Ilona Krey presents our joined #GRIA3 research ‼️ Come and listen if you are interested in #epilepsy #genetics👇 International League Against Epilepsy IBE Epilepsy KBG Foundation @UCPH_BRIDGE

The European Epilepsy Congress #EEC2024 in Rome has come to an end. Thinking back at the amazing scientific achievements for people with #epilepsy. Greatful to have met old friends & collaborators but also greatful for all the new that I have met. The future is promising ‼️

What a great collage by Allan Bayat, associated professor - reflecting how cool the #EEC2024 was for all of the below! Uplifting, hopeful, fun, and inspiring!

Anyone in my network interested in doing a 2-3 year postdoc in Denmark in #epilepsy #genetics? Requirement: 1. You must be an MD‼️ Ideally in neurology or pediatrics. 2. Have to be a PhD‼️ 3. Published before in epilepsy genetics‼️ 4. Fluent in English 4. Good writing skills

Discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder #genetics #IncRNA nejm.org/doi/full/10.10…

New publication on #Shprintzen-#Goldberg syndrome due to #SKI variants. We evaluated the neurodevelopmental & cognitive outcomes of 56 cases & found that 80% had developmental/cognitive impairment. Great work by Emilie Sjøstrøm👏 #SGS ERN-ITHACA #genetics pubmed.ncbi.nlm.nih.gov/39600231/

New #Mobidgene research calls through Heidi. We are looking for patients with #KCNH1 related disorders as well as rare disorders of glycosylation👇 #CDG #epilepsy #genetics Andrew Edmondson 🏳️‍🌈 CDG UK CDG Canada CDG CARE Konrad Platzer ERN-ITHACA Rare Diseases

Happy to present you our latest work on #KCNQ2 and #KCNQ3. Amitriptyline has beneficial effects in some individuals with gain of function variants. Sarah Weckhuysen Charissa Millevert Rikke S. Møller Stéphane Auvin Allan Bayat, associated professor onlinelibrary.wiley.com/doi/10.1111/ep…

Read our latest work on amitriptyline in #KCNQ2 and #KCNQ3 in Epilepsia #OpenAccess onlinelibrary.wiley.com/doi/10.1111/ep…