Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
Rikke S. Møller
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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 💜
Millevert et al. studied genetic variants in the GABRB1 gene associated with epilepsy. Analysis of functional effects and clinical data from 19 individuals
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
Rikke S. Møller
Rikke S. Møller
Stéphanie Baulac
Rikke S. Møller
Rikke S. Møller
Rikke S. Møller
Rikke S. Møller
Torie Robinson
Rikke S. Møller
Rikke S. Møller
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...
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...
