Peter Müller-Wöhrstein
epilepsy-sci.bsky.social
Peter Müller-Wöhrstein
@epilepsy-sci.bsky.social
Physician Scientist in Epilepsy
Hertie Institute Tübingen
Precision Therapy l RNA-Seq
KCNA2, KCNA1 and SCN1A
Dravet Syndrome has been the key developmental and epileptic encephalopathy where new gene therapy options have developed. Thus, we argue that one should reserve the label of Dravet to loss-of-function in SCN1A and that we are sceptical about SCN1A gain-of-function in Dravet:
doi.org/10.1002/epi4...
To the editors: SCN1A gain‐of‐function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications
Click on the article title to read more.
doi.org
October 24, 2025 at 7:57 AM
Reposted by Peter Müller-Wöhrstein
🙌 Tag der Offenen Tür am 19. Oktober 2025 am Hertie-Institut für klinische Hirnforschung. 🧠 Unter dem Motto „Forschung zum Anfassen“ erwartet Sie ein spannendes Programm aus Vorträgen, Laborführungen und Mitmachstationen. Kommen Sie vorbei, wir freuen uns auf Sie! 🎉
👉Mehr Infos: tinyurl.com/arajsh97
October 14, 2025 at 12:55 PM
There seems to be another full #AI paper, this time published by #MDPI:
www.mdpi.com/1422-0067/26...

Have you not heard of the famous "Amybid Plakes" in #Alzheimers? Also, why does this paper list everything they write unter Methods? And why are there EM dahes in the abstract?
October 13, 2025 at 7:29 AM
Reposted by Peter Müller-Wöhrstein
Today my @nytimes.com colleagues and I are launching a new series called Lost Science. We interview US scientists who can no longer discover something new about our world, thanks to this year‘s cuts. Here is my first interview with a scientist who studied bees and fires. Gift link: nyti.ms/3IWXbiE
nyti.ms
October 8, 2025 at 11:29 PM
Nice start to the 3. #Channelopathies meeting in #Tübingen yesterday. #epilepsy #DEE #autism Join online at ec.europa.eu/eusurvey/run...
September 24, 2025 at 8:44 AM
Reposted by Peter Müller-Wöhrstein
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.
Absence of short-term axon initial segment plasticity in human, mouse, and rat cortical circuits https://www.biorxiv.org/content/10.1101/2025.09.01.672986v1
September 3, 2025 at 5:41 AM
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...
Redirecting
doi.org
August 12, 2025 at 3:20 PM
Reposted by Peter Müller-Wöhrstein
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
July 5, 2025 at 3:40 PM
Reposted by Peter Müller-Wöhrstein
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...
July 8, 2025 at 4:34 PM
Reposted by Peter Müller-Wöhrstein
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...
Single-cell spatial transcriptomic atlas of the whole mouse brain
Han et al. used snRNA-seq and Stereo-seq to generate a detailed mouse brain atlas with over 4 million spatially resolved cells and 29,655 genes. Their findings include region- enriched cell clusters a...
www.cell.com
July 9, 2025 at 7:11 PM
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...
All babies in England to get DNA test to assess risk of diseases within 10 years
Newborns will have whole genome sequencing to enable personalised healthcare that predicts and prevents illness
www.theguardian.com
June 21, 2025 at 12:10 PM
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...
doi.org
May 29, 2025 at 12:18 PM
Reposted by Peter Müller-Wöhrstein
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
May 12, 2025 at 11:06 PM
Reposted by Peter Müller-Wöhrstein
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
Multiple sclerosis: Triggers in the gut flora
Study of twins detects bacteria in the small intestine that play a role in the development of MS
www.mpg.de
May 13, 2025 at 10:37 AM
Reposted by Peter Müller-Wöhrstein
Predicting gene expression from DNA sequence using deep learning models www.nature.com/articles/s41... (read free: rdcu.be/elSrE) 🧬🖥️🧪
May 13, 2025 at 3:30 PM
Reposted by Peter Müller-Wöhrstein
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
April 23, 2025 at 4:26 PM
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...
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy - Nature Medicine
Administration of an antisense oligonuceotide in a preterm infant with severe early-onset SCN2A developmental and epileptic encephalopathy was well tolerated and led to a 60% decrease in seizure frequ...
doi.org
April 25, 2025 at 2:48 PM
Reposted by Peter Müller-Wöhrstein
Potential first new antibiotic for gonorrhoea since the 1990s is effective and safe, finds trial.

Explore the research ➡️ tinyurl.com/5bu2nbyt #ESCMID #ESCMIDGlobal
April 15, 2025 at 3:05 PM
Reposted by Peter Müller-Wöhrstein
„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
April 10, 2025 at 3:44 PM
Reposted by Peter Müller-Wöhrstein
#CACNA1S
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
April 8, 2025 at 9:20 AM
Reposted by Peter Müller-Wöhrstein
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
April 9, 2025 at 12:39 PM
Reposted by Peter Müller-Wöhrstein
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...
Norway set to scrap mandatory language training for foreign postdocs and PhD students
Researchers jubilant over swift ministerial response to rule they say would hamper international recruitment.
www.nature.com
April 9, 2025 at 12:42 PM
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...
April 8, 2025 at 7:41 AM
Reposted by Peter Müller-Wöhrstein
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
April 5, 2025 at 12:34 PM
Reposted by Peter Müller-Wöhrstein
Nature research paper: A natural experiment on the effect of herpes zoster vaccination on dementia

https://go.nature.com/3XHRhq5
A natural experiment on the effect of herpes zoster vaccination on dementia - Nature
Using a natural experiment that avoids common bias concerns, this study finds that the live-attenuated shingles vaccine reduced the probability of a new dementia diagnosis within a follow-up period of 7 years by approximately one-fifth.
go.nature.com
April 2, 2025 at 5:18 PM