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