Rikke S. Møller

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

The genetic and phenotypic spectrum of GABRB1-related disorders Millevert et al. studied genetic variants in the GABRB1 gene associated with epilepsy. Analysis of functional effects and clinical data from 19 individuals

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

Done 😊😊

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction Excitatory amino acid transporter 2 (EAAT2) is the predominant glutamate transporter and a key mediator of excitatory neurotransmission in the human b…

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 👇

Thanks for your message @imperfectpitch.bsky.social 😊 You can contact SCN2A Europe here 👉 www.scn2a.eu/contact 🤩

You are also welcome to send me a DM 😊

#StrongerTogether

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 💜

Welcome to Bluesky @vangroovymom.bsky.social 🦋

I have added you to the Rare Genetic Epilepsies Starter Pack 🧠🧬
#DCX #FLNA #PVNH

Course summary and registration details for the San Servolo Advanced Epilepsy Course 2025 on Bridging Basic Science with Clinical Epileptology. Course takes place in Venice from July 21 to August 1 and will address the role of non-neuronal cells in epilepsy.

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...

Welcome to Bluesky 🦋 @katrinemjohannesen.bsky.social 🥳 I have added you to the Rare Genetic Epilepsies Starter Pack 🧠🧬

#SLC6A1 #GABAA-receptor related disorders

Welcome to Bluesky 🦋 @eheinzen.bsky.social 😊 I have added you to the Rare Genetic Epilepsies Starter Pack 🧠🧬

Welcome to Bluesky 😊, I have added you to the Rare Genetic Epilepsies Starter Pack 🧠🧬

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 🤩

Sure thing 🤩 - you have now been added 👍

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

Welcome to Bluesky 🦋 @lignanilab.bsky.social 🤩 I have added you to the rare genetic epilepsies starter pack 🧠🧬
#DravetSyndrome #GeneTherapy #CRISPR

Welcome to Bluesky @katjakobow.bsky.social 🤩
I have added you to the starter pack on rare genetic epilepsies 🧠🧬
#FCDs #Epigenetics #MOGHE #SLC35A2

Welcome to Bluesky Peter (@epilepsy-sci.bsky.social). I have added you to the rare #epilepsy starter pack 🤩

#KCNA2 #KCNA1 #SCN1A

The natural history of CDKL5 deficiency disorder into adulthood Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical ...

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...

Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy Cenobamate is a promising and safe treatment for SCN8A-DEE, even during early childhood. As a potential precision approach to treatment, cenobamate significantly reduced seizure burden and improved n...

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

Heading home to Danmark 🇩🇰

Looking back on a year with tremendous progress in the research into rare genetic epilepsies, with multiple promising clinical developments on the horizon ⭐️ Can't wait to see what we as a community will accomplish in 2025 🤩

Happy holidays to all 😍🎄🎉

#StrongerTogether 💜

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 🤩