Huge congratulations to the amazing Roberto Previtali who was awarded the #SCN8A The Cute Syndrome Foundation clinician award 💜 So well deserved 🤗 #ProudPIs 😍 Elena Gardella

Khaing Phyu Aung from The Reid Lab (Florey) presented her amazing work on a #GABRD gain-of-function mouse model 🐭 of epilepsy 🧠 Super exciting results ⭐️ - #GABAA community, watch out for the paper 🤩 #Epilepsy 🧠 #Gene 🧬 #AES2024 Cure GABA A GABA A Alliance Lundbeckfonden

A great day for Elena Gardella and the #epilepsy community in Denmark 🇩🇰 and beyond 🌍 Elena Gardella gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology 🤩

Attending the 1st Latin American Congress on #Epilepsy #Genetics in Chile 🇨🇱 Huge congrats to Carolina Alvarez and Eduardo Pérez Palma for organizing this foundational and inspiring congress 🤩👏 #StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine

What an incredible three days ‼️ Huge congrats to Eduardo Pérez Palma for organizing such a remarkable event, and for the great hospitality 😍🤗 Here’s to future collaborations 🌟 🤩 ¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️ #Epilepsy #Genetics

Publication alert 📢 Cenobamate as add-on treatment SCN8A-DEE ‼️ ⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️ Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏 #Epilepsy 🧠 #Genetics 🧬 onlinelibrary.wiley.com/doi/full/10.11…

New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗ Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️ Ángel Aledo-Serrano, David Lewis-Smith 💪👏 #Epilepsy 🧠 #Genetics 🧬 medrxiv.org/content/10.110…

Great pleasure to attend the Synapse Biology in Health and Disease Symposium at University of Copenhagen 🇩🇰 Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1 🧠 Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩

Huge congrats to Leonardo Affronte for successfully defending his thesis on #KCNA2 related disorders 🎉🎉 We are so proud of you and all your accomplishments 🤩 #Epilepsy 🧠 #Genetics 🧬

We are very happy to share the newest achievement of Sarah Weckhuysen lab VIB Center for Molecular Neurology on Fibroblast transcriptomics. Congrats to Noor Smal #clinicalimplications #geneticepilepsy onlinelibrary.wiley.com/share/author/K…

In our weekly AI-Podcast series, our digital hosts are discussing this week the recent preprint from Rikke S. Møller, Ángel Aledo-Serrano & team on CDKL5-deficency disorders in adulthood. Check out the content in one out of for languages: youtube.com/@dennislal328/…

The weeks AI-Podcast: #SLC6A1-related Disorders 🎙️ Many topics summarized from 4 recent publications on SLC6A1-related disorders. All details in the video description. As usual all videos available in English, Spanish, German and Portuguese Link: youtube.com/@dennislal328/…

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…

#RareDiseaseDay2025 Our advanced gene portals provide daily families, clinicians & scientists with expert curated clinical, functional and genetic data. Check them out: cacna1a-portal.broadinstitute.org scn-portal.broadinstitute.org grin-portal.broadinstitute.org slc6a1-portal.broadinstitute.org and more...

Thrilled to share the program for the 3rd #SCN2A and #SCN8A scientific conference and family gathering 🤩 📅 May 16th-17th, Bonn, Germany ⭐ Registration is free of charge👉 lets-meet.org/reg/b7f4598e20… Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜

One of the missions of EpiCARE is to promote clinical research on genetic epilepsies 🧠 Check out EpiCAREs webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇 #StrongerTogether💜 #Epilepsy

Is #cenobamate a good treatment option in #Dravet syndrome? ➡️The most accurate answer might be: it depends. Our group has just published this article in Epilepsia where we show negative results in pediatric patients👇 onlinelibrary.wiley.com/doi/10.1111/ep…

The importance of precision medicine in #epilepsy. Check out our paper in Epilepsia! onlinelibrary.wiley.com/doi/10.1111/ep…