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Rikke S. Møller @rikkesmoller.bsky.social · Jul 5

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jun 17

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...

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

academic.oup.com

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Reposted by Rikke S. Møller

Stéphanie Baulac @sbaulac.bsky.social · May 15

📢 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

Nature Neuroscience @natneuro.nature.com · Apr 30

Single-cell genotyping and transcriptomic analysis reveals cell-type specific and non-autonomous effects of mTOR pathway mutations in mosaic focal cortical dysplasia type II (FCDII) 🧠🧪

www.nature.com/articles/s41...

Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia - Nature Neuroscience

In this work, the authors performed a single-cell genotyping and transcriptomics analysis, revealing cell-type-specific and nonautonomous effects of mTOR pathway mutations in mosaic focal cortical dys...

www.nature.com

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Rikke S. Møller @rikkesmoller.bsky.social · May 1

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

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Rikke S. Møller @rikkesmoller.bsky.social · Apr 5

Done 😊😊

Rikke S. Møller @rikkesmoller.bsky.social · Apr 5

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...

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…

www.sciencedirect.com

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Rikke S. Møller @rikkesmoller.bsky.social · Apr 5

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

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Reposted by Rikke S. Møller

Torie Robinson @torierobinson.bsky.social · Mar 27

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 👇🏻!

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Rikke S. Møller @rikkesmoller.bsky.social · Mar 19

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 👇

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Rikke S. Møller @rikkesmoller.bsky.social · Mar 8

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

Contact

www.scn2a.eu

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Rikke S. Møller @rikkesmoller.bsky.social · Mar 6

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 💜

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Rikke S. Møller @rikkesmoller.bsky.social · Mar 3

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 💜

Rikke S. Møller @rikkesmoller.bsky.social · Jan 29

Welcome to Bluesky @vangroovymom.bsky.social 🦋

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

Reposted by Rikke S. Møller

Katja Kobow @katjakobow.bsky.social · Jan 24

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...

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.

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 25

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

#SLC6A1 #GABAA-receptor related disorders

Rikke S. Møller @rikkesmoller.bsky.social · Jan 25

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 24

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

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Reposted by Rikke S. Møller

Epilepsia Journal @epilepsiajournal.bsky.social · Jan 24

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 24

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 🤩

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 20

Sure thing 🤩 - you have now been added 👍

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Reposted by Rikke S. Møller

Madeleine Oudin @madeleineoudin.bsky.social · Jan 20

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

Rikke S. Møller @rikkesmoller.bsky.social · Jan 15

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...

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...

onlinelibrary.wiley.com

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 18

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 17

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

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 16

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

#KCNA2 #KCNA1 #SCN1A

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Rikke S. Møller @rikkesmoller.bsky.social · Jan 15

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...

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 ...

www.medrxiv.org

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