📢 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
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 👇🏻!
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
Stéphanie Baulac
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 💜
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
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
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 💜
Torie Robinson
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 👇
Rikke S. Møller
Rikke S. Møller
Rikke S. Møller
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...
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...
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...
Rikke S. Møller
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…
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...
