Peter Müller-Wöhrstein's Avatar

Peter Müller-Wöhrstein

@epilepsy-sci.bsky.social

Physician Scientist in Epilepsy Hertie Institute Tübingen Precision Therapy l RNA-Seq KCNA2, KCNA1 and SCN1A

87 Followers  |  100 Following  |  23 Posts  |  Joined: 16.01.2025  |  2.299

Latest posts by epilepsy-sci.bsky.social on Bluesky

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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

05.07.2025 15:40 — 👍 6    🔁 2    💬 0    📌 0
Epilepsy Genetics Graduation 2025. Our ENGIN fellowship team 2025 including (left to right from myself) our incoming fellow Riley Kessler, graduating fellow Laura McGarry, and current fellowship director Jill McKee. The CHOP Neurology graduation typically takes place in the Philadelphia College of Physicians aka the “hall of old white men with beards”. This is us under the portrait of Alfred Stillé (1813–1900) who advanced American medicine through education reforms and who help shape modern medical professionalism by being a critical part in founding the American Medical Association.

Epilepsy Genetics Graduation 2025. Our ENGIN fellowship team 2025 including (left to right from myself) our incoming fellow Riley Kessler, graduating fellow Laura McGarry, and current fellowship director Jill McKee. The CHOP Neurology graduation typically takes place in the Philadelphia College of Physicians aka the “hall of old white men with beards”. This is us under the portrait of Alfred Stillé (1813–1900) who advanced American medicine through education reforms and who help shape modern medical professionalism by being a critical part in founding the American Medical Association.

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...

08.07.2025 16:34 — 👍 1    🔁 1    💬 0    📌 0
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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...

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...

09.07.2025 19:11 — 👍 11    🔁 3    💬 0    📌 0
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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

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...

21.06.2025 12:10 — 👍 0    🔁 0    💬 0    📌 0

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...

29.05.2025 12:19 — 👍 0    🔁 0    💬 0    📌 0
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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

12.05.2025 23:06 — 👍 9    🔁 7    💬 1    📌 1
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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

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

13.05.2025 10:37 — 👍 26    🔁 7    💬 0    📌 1
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Predicting gene expression from DNA sequence using deep learning models www.nature.com/articles/s41... (read free: rdcu.be/elSrE) 🧬🖥️🧪

13.05.2025 15:30 — 👍 16    🔁 6    💬 0    📌 0
Pictures from the discussions and presentations at the meeting

Pictures from the discussions and presentations at the meeting

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

23.04.2025 16:26 — 👍 8    🔁 5    💬 0    📌 0
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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...

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...

25.04.2025 14:48 — 👍 3    🔁 0    💬 0    📌 0
Research in context panel from Lancet paper "Oral gepotidacin for the treatment of uncomplicated urogenital gonorrhoea (EAGLE-1): a phase 3 randomised, open-label, non-inferiority, multicentre study". Copyright: 2025 Elsevier Ltd. All rights are reserved.

Research in context panel from Lancet paper "Oral gepotidacin for the treatment of uncomplicated urogenital gonorrhoea (EAGLE-1): a phase 3 randomised, open-label, non-inferiority, multicentre study". Copyright: 2025 Elsevier Ltd. All rights are reserved.

Potential first new antibiotic for gonorrhoea since the 1990s is effective and safe, finds trial.

Explore the research ➡️ tinyurl.com/5bu2nbyt #ESCMID #ESCMIDGlobal

15.04.2025 15:05 — 👍 99    🔁 38    💬 4    📌 7
Forscher im Netz: Philipp Lorenz-Spreen ergründet die Grundlagen für Hass und Desinformation im Netz. Foto: © Gesine Born für MPG

Forscher im Netz: Philipp Lorenz-Spreen ergründet die Grundlagen für Hass und Desinformation im Netz. Foto: © Gesine Born für MPG

„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

10.04.2025 15:44 — 👍 15    🔁 8    💬 0    📌 0
A purple graphic with white text and a hand-drawn unicorn with a pink mane, golden horn, and green stars around it. The heading reads "LOOKING FOR THE ONE IN A MILLION." The text explains that the CACNA1S gene is essential for skeletal muscle contraction and vital for functions like respiration, posture, communication, locomotion, and heat production. It states that mutations in CACNA1S are linked to symptoms such as muscle weakness, delayed motor development, scoliosis, dysmorphic facial features, periodic paralysis, and susceptibility to malignant hyperthermia. It invites families and individuals with confirmed CACNA1S gene changes to join the community, ending with a call to contact and the website: thevgccc.org.

A purple graphic with white text and a hand-drawn unicorn with a pink mane, golden horn, and green stars around it. The heading reads "LOOKING FOR THE ONE IN A MILLION." The text explains that the CACNA1S gene is essential for skeletal muscle contraction and vital for functions like respiration, posture, communication, locomotion, and heat production. It states that mutations in CACNA1S are linked to symptoms such as muscle weakness, delayed motor development, scoliosis, dysmorphic facial features, periodic paralysis, and susceptibility to malignant hyperthermia. It invites families and individuals with confirmed CACNA1S gene changes to join the community, ending with a call to contact and the website: thevgccc.org.

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

08.04.2025 09:20 — 👍 2    🔁 2    💬 0    📌 0

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

09.04.2025 12:39 — 👍 10    🔁 3    💬 0    📌 0
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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.

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...

09.04.2025 12:42 — 👍 16    🔁 4    💬 0    📌 2
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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...

08.04.2025 07:41 — 👍 0    🔁 0    💬 0    📌 0
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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

05.04.2025 12:33 — 👍 9    🔁 1    💬 1    📌 0
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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.

Nature research paper: A natural experiment on the effect of herpes zoster vaccination on dementia

https://go.nature.com/3XHRhq5

02.04.2025 17:18 — 👍 72    🔁 23    💬 1    📌 3

I do really agree with this sentiment.
However, large datasets can still offer guidence for future research. Coming from the neuroscience community, the big datasets of the Allan Brain institute have given the field a deeply needed common ground in defing brainregions and celltypes.

01.04.2025 12:20 — 👍 1    🔁 0    💬 0    📌 0
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Review: Transcriptomics in the era of long-read sequencing www.nature.com/articles/s41... (read free: rdcu.be/efBjP) 🧬🖥️🧪

29.03.2025 08:57 — 👍 23    🔁 8    💬 1    📌 0
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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 !

29.03.2025 13:57 — 👍 3    🔁 1    💬 0    📌 0

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)

26.03.2025 07:36 — 👍 3    🔁 2    💬 0    📌 0
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The need for hemispheric separation in pairwise structural disconnection studies We simulated pairwise structural disconnections and compared two approaches of analyzing brain damage: unilateral lesions from both hemispheres together or separated by hemisphere. In contrast to the...

Nice work!

I have a technical question:
Does the coordinate network mapping take hemispheric seperation into account?
In lesion mapping it is known that performing joint analysis underestimates intra-hemispheric disconnections onlinelibrary.wiley.com/doi/10.1002/...

25.03.2025 08:55 — 👍 2    🔁 0    💬 1    📌 0
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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

21.03.2025 00:10 — 👍 19    🔁 11    💬 0    📌 0
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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!)

17.03.2025 23:52 — 👍 11    🔁 4    💬 1    📌 1

Very nice work! Interesting that scANVI performs better on unseen clusters in comparison to scVI. I would have predicted the opposite.

19.03.2025 15:22 — 👍 0    🔁 0    💬 1    📌 0
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Nav1.8, an analgesic target for nonpsychotomimetic phytocannabinoids | PNAS Pain impacts billions of people worldwide, but treatment options are limited and have a spectrum of adverse effects. The search for safe and nonadd...

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...).

13.03.2025 09:17 — 👍 0    🔁 0    💬 0    📌 0

👉Today: Last Day of Late Registration👈

12.03.2025 08:37 — 👍 3    🔁 2    💬 0    📌 0
16th Göttingen Meeting of the German Neuroscience Society - Participant 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...

07.03.2025 09:04 — 👍 6    🔁 4    💬 0    📌 1

Interesting data, however the scope of this project is limited. The biggest city in mesoamerica during 1-500 CE was Teotihuacan, an urban center with equal housing and without elite epigraphs. Inequality is not a law of nature.
I recommend reading: The Dawn of Everything: A New History of Humanity

10.03.2025 20:09 — 👍 0    🔁 0    💬 0    📌 0

@epilepsy-sci is following 20 prominent accounts