Nice start to the 3. #Channelopathies meeting in #Tübingen yesterday. #epilepsy #DEE #autism Join online at ec.europa.eu/eusurvey/run...

Hello world! We just released a thing! In this preprint we provide evidence questioning the ability of the axon initial segment to undergo rapid structural plasticity in intact neurons from mouse, rat, and human cortex.

Amazing work from the lab of Marín highlighting the role of activity-dependent expression of PGC-1α together with ERRγ for maturation of #PV interneurons: doi.org/10.1016/j.ce... Interestingly, we predict less ERRγ activity in PV from our #RNA-Seq of #Dravet mouse #SCN1A: dx.doi.org/10.1101/2023...

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

Five principles for teaching epilepsy genetics | Beyond the Ion Channel ...our blog post celebrating the 5th anniversary of our ENGIN epilepsy genetics fellowship epilepsygenetics.blog/2025/07/08/f...

A super cool #single-cell spatial transcriptomic mouse #brain atlas is out! 🐭🧠🔬 Unveiling cell types, #gene expression, & TF dynamics across the whole brain! Awesome! ✨ #neuroskyence #neuroscience #compneurosky www.cell.com/neuron/fullt...

The UK is going to implement #wholegenome sequencing for all newborns. This is going to be very interesting for the #raredisease community and might even be the start for preventive therapy options. www.theguardian.com/science/2025...

Nice paper on variants in the tricky glutamate transporter / anion channel #SLC1A2 / #EAAT2 which is assoziated with episodic #ataxia type 6. They found three types: overall loss-of-function, mild gain-of-anion function, and mixed loss-of-transport/gain-of-anion function. doi.org/10.1016/j.eb...

Charlotte Dravet died May 10, 2025. She was a pediatric neurologist and epileptologist, best known for the eponymous Dravet Syndrome - and also an avid patient advocate. 1/🪑 #MedSky #NeuroSky

In a twin study, Max Planck researchers successfully characterized gut bacteria involved in #MultipleSclerosis and provided evidence of their pathogenicity. www.mpg.de/24685137/050... @mpiforbi.bsky.social

Predicting gene expression from DNA sequence using deep learning models www.nature.com/articles/s41... (read free: rdcu.be/elSrE) 🧬🖥️🧪

What an inspiring #HertieNetwork Symposium in Mannheim on April 10–11! A big thank you to the organizers and the amazing hosting team for two days full of insightful discussions and excellent scientific presentations! #ExcellenceInClinicalNeuroscience

Amazing news form Borggräfe and the PRAXIS team. They just published the first use of the #SCN2A #ASO in a human. This child was born in status epilepticus and they could stop the status epilepticus 8 days after the first adminstration of the ASO. doi.org/10.1038/s415...

Potential first new antibiotic for gonorrhoea since the 1990s is effective and safe, finds trial. Explore the research ➡️ tinyurl.com/5bu2nbyt #ESCMID #ESCMIDGlobal

„Spaltende, emotionale und negative Inhalte sind besonders erfolgreich“. Fünf Fragen an Philipp Lorenz-Spreen @lorenzspreen.bsky.social zur politischen Meinungsbildung in den sozialen Medien. mpg.de/24494077/fue... #SocialMedia #Desinformation #Demokratie

#CACNA1S Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org

Where do #proteins go in cells? Next-generation methods map the molecules’ hidden lives! Spatial #proteomics at the lab of Matthias Mann @mpibiochem.bsky.social is helping biologists to uncover how cells work by mapping where proteins operate.😊 nature.com/articles/d41... #cellbiology @nature.com

Kudos to Minister Sigrun Aasland @kd.regjeringen.no for scrapping the language requirement for international PhD students and postdocs. I was interviewed by @nature.com about this decision that strengthens recruitment in a country where 75% of postdocs are from abroad. www.nature.com/articles/d41...

Nice paper by Keith et al. on the importance of the perirhinal area for spatial learning in mouse models of autism. doi.org/10.1126/scia... I wonder though why they did the viral knockdown of Scn2a so late (P20). Here, Scn2a is getting replaced by Scn8a in most AIS already: doi.org/10.1093/brai...

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

Nature research paper: A natural experiment on the effect of herpes zoster vaccination on dementia https://go.nature.com/3XHRhq5

Review: Transcriptomics in the era of long-read sequencing www.nature.com/articles/s41... (read free: rdcu.be/efBjP) 🧬🖥️🧪

Lovely conference is coming to an end. Our Tübingen delegation had a blast communicating about science and (re-)connecting with other scientists. Thank you @neurowissg.bsky.social !

On my way to Göttingen @neurowissg.bsky.social 🚄 If you are interested in understanding the development of monogenetic epilepsies 🧠⚡ and new precision medicine approaches 🧬💊, check out these posters by me and my colleagues from Tübingen: T10-1D (Scn1a LoF) T10-4C (Kcna2 GoF) T10-4D (Kcna2 LoF)

In work led by Ben Pinksy, Grant Higerd-Rusli, Matthew Hernandez & @abraarkaran.bsky.social, in @thelancet.bsky.social, we describe the importance of testing a broader range of people for #H5N1 bird flu in order to check for potentially hidden spread & new routes of transmission t.co/yZeHRcUV65

For those of you marching into neurology this week: Congratulations and welcome to the family! (Shhh. Don’t let the rest of them know we have a secret handshake!)

Nice paper by Waxmans lab: A thorough assessment of the Cannabinoids CBD, CBG and CBN and their effect on the voltage gated sodium channel Nav 1.8. All three inhibit Nav 1.8 in the micromolar range. (www.pnas.org/doi/10.1073/...), confirming prior work by Beans lab on CBD (doi.org/10.1523/jneu...).

👉Today: Last Day of Late Registration👈

Only few days left until the "holy halls" of the ZHG of the University of Göttingen open their doors for vibrant exchange of knowledge at #NWG2025. Late registration for this is still open until 12 March 2025, but registration is also possible on site as usual: www.nwg-goettingen.de/2025/default...

Website launch Global network, amplifying the patient voice, driving research and treatment. This is a collaboration powered by passion, determination, and the pursuit of answers. #calcium #channelopathies #research #community #ionchannels #RareDiseaseDay #equity #raredisease

Very nice work! I hope that this will be published soon, as the current methods of LR interactions are quiet limited for #neuroscience. (NeuroChat is nice, but has a very small database in comparison)

A question for the #RNA-Seq community: I found the approach of Gong and collegues of using a #boolean framework in order to detect trancription factor networks quiet interesting (BENEIN). However, I did not find a possibility to access their code. Is there a repository? doi.org/10.1002/advs...

New in @thelancet.bsky.social, a first-in-human gene therapy trial in children with AIPL1-associated severe retinal dystrophy. www.thelancet.com/journals/lan...

Today we Celebrate International Epilepsy Day & The Rare Epilepsies! This day encourages everyone, regardless of how they are affected by epilepsy, to advocate for global human rights for people living with epilepsy. www.rareepilepsynetwork.org

Overall, though this study highlights the role of microglia in the kainic acid status epilepticus model and replicates some the findings on Rack1 in the pilocarpine status epilepticus model (doi.org/10.1111/jnc....). (4 of 4)

And third, some analyses are just strange. Why would you calculate #pseudotime for a population of cells that are from clearly different lineages, like neurons and microglia? Why would you calculate the change of Rack1 expression over pseudotime, but not split it by the conditions you looked at?

Second, some graphs in the figures themselves are mislabelled. Fig 1C has “epithelial cells” two times and “oligodendrocytes” are missing. Fig. 10A and Fig. 10B are clearly at odds with each other, depicting different magnitudes of current injections. (2 of 4)

New paper by Zhang et al who performed #RNA-Seq on the kainate #epilepsy mouse and found interesting changes in microglia. However, this paper is strange in multiple ways: First, there are multiple obvious grammer errors (e.g. legend of Fig 10A or results of Fig 6) (1 of 4) doi.org/10.1186/s129...

This amazing study reconstructed the exact composition of GABA-A receptors from #epilepsy patients using cryo EM: doi.org/10.1038/s415...

There are some things in #epilepsy that are ever so counterintuitive. Here, blocking GABA rezeptors with gabazine decreases firing rates of pyramidal and inhibitory neurons only in mice with epilepsy due to a loss-of-function in #Scn1a. Taken from this very nice paper: doi.org/10.1093/brai...

Bluesky’s science takeover: 70% of Nature poll respondents use platform https://www.nature.com/articles/d41586-025-00177-1

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...

@rikkesmoller.bsky.social Hi Rikke, I am Peter from Tübingen and wanted to ask whether you could include me in the rare epilepsy starter pack. ❤️