Exciting Announcement‼️ Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩 ⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩 📅 May 6-8, 2026, in Køge, Denmark 🇩🇰 #DICE2026 @torierobinson.bsky.social

Publication alert 📢 The genetic and phenotypic spectrum of #GABRB1-related disorders 🧠 We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️ academic.oup.com/brain/advanc...

📢 Paper out! Focal Cortical Dysplasia-linked epilepsy is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelopment

Dreaming of a career in neuroscience 🧠? Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️ 📅 Application deadline: August 11, 2025 Learn more about NAD at 👉 neuroscienceacademydenmark.dk

Publication alert 📢 The severity of #SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction 🧬🧠 ⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️ Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪 www.sciencedirect.com/science/arti...

Heading home after a fantastic Troina meeting on #genetics 🧬 of neurodevelopmental disorders 🇮🇹 Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩 #Epilepsy @hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social

Child neurologist Matthias De Wachter 🤩 and I are chatting on the podcast 🎙️ re the often-overlooked aspects of #epilepsy 😮! We explore: 🔹 Symptoms beyond seizures 🔹 Lifestyle impacts 🔹 Paediatric to adult care 🔹 Drug repurposing 🔹 Research on rare epilepsies Links in next post below 👇🏻!

One of the missions of EpiCARE (the European Reference Network for rare and complex epilepsies) is to promote clinical research on genetic epilepsies 🧠 Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇

Thrilled to share the program for the 3rd #SCN2A and #SCN8A scientific conference and family gathering 🤩 📅 May 16th-17th, 2025 📍 Bonn, Germany ⭐ Registration is free of charge 👉 lets-meet.org/reg/b7f4598e... Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜

Today the amazing @agustinafernandez.bsky.social from Cure GABAA Variants and her lovely family visited the Danish Epilepsy Centre 😍 It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊 Together, we can drive change ‼️ #StrongerTogether 💜

Calling any trainees and early career researchers interested in epilepsy and new drug development - places still remain on this summer's Advanced Epilepsy Course, held in San Servolo, Venice, Italy! www.ilae.org/congresses/2...

Key point: Cenobamate is a promising and safe treatment for SCN8A-related DEEs, even during early childhood. doi.org/10.1111/epi.... #epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE

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-related disorders 🧠🧬 Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩

Excited to see this paper out - Cenobamate has helped Margot so much and I hope this data will help expand access for pediatric patients.

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 ‼️ Angel Aledo-Serrano & David Lewis-Smith 💪👏 #Epilepsy 🧠 #Genetics 🧬 www.medrxiv.org/content/10.1...

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/abs/10.1...

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

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

Rima & Rimo in Roma 🤣, attending the "In Search of Lost Time 5" EpiCARE workshop 🧠 The workshop is focusing on the complex intersections of #FCDs and autoimmune diseases with #epilepsy 🧠 Excellent scientific talks, extremely inspiring discussions & always a pleasure seeing friends and colleagues 🤩

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

Back in Denmark 🇩🇰 after a fantastic week in US 🇺🇲 Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍 Thanks to all who made this trip unforgettable 😍

I am incredibly grateful, humbled & honored to have recieved this CureGABAA award 💜 It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩 #StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬

Publication alert 📢 Understanding paralogous epilepsy–associated GABAA receptor variants 🤩 Our findings illustrate how gene family information may facilitate variant interpretation👍 Excellent work by Anthony, Ali & Nazanin 👏 #Epilepsy 🧠 #Genetics 🧬 www.pnas.org/doi/10.1073/...

Wonderful visit at Stanford University 🤩 Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩 #GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭

I've updated the starter pack for rare genetic epilepsies 🧠🧬 It is a work in progress and I will continue to update the pack over the coming weeks 🤩 go.bsky.app/NXw4e8C

New #somatic variants and candidate genes in patients with focal #epilepsy and structural brain lesions 🧠🧬 Impressive study by Dennis Lal and colleagues 👏👏 First step towards precision medicine is precision diagnosis ‼️ www.nature.com/articles/s41...

Join us for the Synapse Biology in Health and Disease Symposium in Copenhagen 🇩🇰 in January 👇 Open to All: Featuring invited talks, poster sessions & short talks selected from submitted abstracts 🧠 #Neuroscience #SynapticFunction @naddenmark.bsky.social @ucph.bsky.social @perrier-lab.bsky.social

Celebrating 🎉 that @rebekkadahl.bsky.social is starting her PhD entitled: Decoding GABAA Receptor Variants: Disentangling Clinical Phenotypes Though Computational Approaches 🧠🧬 Give her a follow 👍 to learn more about her work on machine-learning based predictors for GABAA receptor variants 😊

Getting ready for an exciting week in US 🤩 ⭐ 1 stop - Stanford University to visit our amazing DARE Fellow Cordelia 💪 ⭐ 2 - The 2nd annual Cure GABAA Conference ⭐ 3 - The annual #SCN8A Clinician, Researcher, and Family Gathering ⭐ 4 - the American #Epilepsy Society meeting See you in LA?

20 years of work depicted in a word cloud 🧠🧬💊😅 What are your research areas of interest? Try to draw your personalized word cloud at scholargoggler.com 😊 #Epilepsy #Genetics #EpilepsyAwareness #RareDisease

Honoured to talk about Precision Therapies in #Epilepsy during the XXXII Romanian 🇷🇴 Epilepsy Conference 🧠🧬💊 Grateful for the opportunity to share insights on variant interpretation & new and emerging therapies for genetic epilepsies 💜 #StrongerTogether #CollaborationIsKey #RareDisease

📆 Save the date ‼️ The third 🌍 #SCN2A & #SCN8A Scientific Conference & Family Gathering will be held on May 16th-17th, 2025 💜 Venue: Kranz Parkhotel, Siegburg/Bonn 🇩🇪 More info will follow soon ‼️ #Epilepsy 🧠 #Genetics 🧬 #StrongerTogether 😍 @scn2a.bsky.social @scn8a.bsky.social

NAD is on Bluesky! 🦋 Neuroscience Academy Denmark aims to educate the neuroscientists of the future and motivate networking and collaboration between neuroscience research groups in Denmark 🧠 Follow us here on Bluesky to get updates on our activities or visit our website 👉 bit.ly/3AR5qsI

I've updated the starter pack for rare genetic epilepsies 🧠🧬 It is a work in progress and I will continue to update the pack over the coming weeks 🤩 go.bsky.app/NXw4e8C

Quantitative EEG biomarkers for STXBP1-related disorders 🧬 Relative Delta Power is even higher in #STXBP1-DEE than in other developmental & epileptic encephalopathies - highest in the frontal areas 🧠 For more info 👉 onlinelibrary.wiley.com/doi/10.1111/... #Epilepsy #Genetics

I made a starter pack of clinicians, scientists and patient advocates working on genetic epilepsies 💜 Please let me know if you want to be added (/removed)🤩 #Epilepsy #Genetics #StrongerTogether go.bsky.app/NXw4e8C