On #SCN2AAwarenessDay, we highlight SCN2A-related #epilepsy, #autism, and neurodevelopmental disorders—calling for discovery science, early genetic testing, and targeted therapeutics.

Click here for #SCN2A research: www.sciencedirect.com/journal/gene...

#GenesAndDiseases #NeuroScience #Genomics

After losing her daughter to #SCN2A complications, Angie Weaver donates her daughter’s brain for #RareDiseaseResearch. This vulnerable story explores grief, love & what it means to make an ultimate gift in the hope of helping other families. 🎧 https://ow.ly/jzBM50YawZe

Angie Weaver holds onto an unshakable belief: that her daughter, who has a rare #SCN2A disorder, will beat the odds. Don't miss this incredibly powerful and emotion story we produced in partnership with Biohub Rare As One Project on our podcast this week.

🎧 https://ow.ly/hq4N50Yawow

#RareDisease

The #SCN2A community is incredible. We got interested after hearing about the gene at a @simonsfoundation.org SFARI Investigator Meeting. Later we started fruitful discussions and got mice from @neurobender.bsky.social. Hao was further inspired attending the @scn2a.bsky.social Conference. 🙌

6/6

Autism-associated Scn2a haploinsufficiency disrupts in vivo dendritic signaling and impairs flexible decision-making | PNAS SCN2A is a high-confidence risk gene for autism spectrum disorder. Loss-of-function mutations in Scn2a reduce dendritic excitability in neocortical...

We’ve thought a lot about how 💊 drugs act on dendrites of neurons, but what about when it is a 🧬 mutation that affects dendrites?

PhD student Hao Wu studied #Scn2a deficiency in mice. Just out at @pnas.org, her research led to two major findings.

www.pnas.org/doi/10.1073/...

1/6

Landmark UCSF Study Demonstrates Functional Rescue of SCN2A Loss of Function, Underscoring the Potential of Regel Therapeutics' Targeted EpiEditing Platform. /PRNewswire/ -- The laboratories of Dr. Kevin Bender and Dr. Nadav Ahituv at the University of California, San Francisco, today announced the publication of...

🚨 Big news for the #SCN2A community 🚨

Landmark UCSF study shows CRISPR activation can restore SCN2A function — even later in development. A real step forward, and real hope, for families living with SCN2A-related disorders. www.prnewswire.com/news-release...

This work was spearheaded by PhD student Hao Wu.

The #SCN2A community is incredible.

We got interested after first hearing about the gene at the @simonsfoundation.org SFARI Investigator Meeting. Then Hao attended the @scn2a.bsky.social #SCN2Aconference, which motivated us to pursue the study. 🙌

Title page of preprint

SCN2A is a top risk gene for autism. But how does losing one copy of it affect dendritic function during flexible decision-making? 🧬🐭🧠🧪

Our study in preprint @biorxivpreprint: www.biorxiv.org/content/10.1...

Supported by a @simonsfoundation.org SFARI Pilot Award 🙌
#SCN2A #cureSCN2A

Rare dysfunctional SCN2A variants are associated with malformation of cortical development - PubMed These results support expansion of the clinical spectrum of SCN2A-related disorders and the association of genetic variation in SCN2A with MCD, which suggests previously undescribed roles for SCN2A…

📌 Takeaway:
SCN2A variants can lead to MCD + DEE via gain-of-function in NaV1.2. Our work expands the SCN2A clinical spectrum and implicates it in fetal brain development.

🧾 Read the full study:
pubmed.ncbi.nlm.nih.gov/39707911/

#SCN2A #epilepsy #neuroscience #genetics #Nav1.2

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...

📹 YouTube youtu.be/NacQ378O5gU
🎙️ Podcast shorturl.at/j0SOT
✍️ Show notes shorturl.at/OLPVI

#epilepsy #geneticepilepsy #ring20 #dravet #SCN2A #SCN8A #precisionmedicine

📹 YouTube youtu.be/NacQ378O5gU  
🎙️ Podcast shorturl.at/j0SOT 
✍️ Show notes shorturl.at/OLPVI 

#epilepsy #geneticepilepsy #ring20 #dravet #SCN2A #SCN8A #precisionmedicine

We're proud to celebrate the opening of the #SCN2A / #SCN8A Multidisciplinary Clinic at Children’s Hospital Colorado, led by Dr. Megan Abbott.
This clinic represents hope, progress, and a new chapter of support for our community.
www.scn2a.org/news.html
💜💚💙

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 💜

Kris Pierce from #SCN2A Australia & #ChildUnlimited, UNSW shares that #consumerengagement is especially critical for rare diseases due to the complexity, uncertainty, diagnostic challenges, limited research / tx options & lifelong impact of the disease. #RareDiseaseDay

Thank you @kearneylab.bsky.social for your dedication to #SCN2A!

Grateful to @scn2a.bsky.social and MDBR riders, volunteers and donors for the opportunity to pursue an exciting pilot study on #SCN2A 🚴‍♀️🧪🧬 #RareDisease

📣 Please join us in congratulating Jennifer Kearney, PhD as this year’s MDBR awardee! Dr. Kearney created the first ever #SCN2a mouse model & also serves on the Foundation’s SAB.

Thank you riders, volunteers and donors!

Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...

The much-anticipated recap of our experience at the #AES2024 is here! Check out how we kept #SCN2A front and center throughout this 4-day event!

👉 Read the full summary here: www.scn2a.org/AES-2024-Rec...

👉 Donate here: secure.qgiv.com/event/givesc...

💜💙💚

#CureSCN2A #GiftOfHope

So proud to be apart of this team dedicated to #CureSCN2A!

#AES2024 #SCN2A

Our team proudly represented the #SCN2A community at #AES2024! Over 4 days, we worked tirelessly to spread awareness, educate, and collaborate on advancing care and treatments for SCN2A-related disorders.
Each meeting and conversation reinforced the power of collaboration in driving progress!

On this #GivingTuesday consider the FamilieSCN2A Foundation @scn2a.bsky.social as a recipient of your generosity. (www.scn2a.org)

#SCN2A is one of the leading single-gene causes of neurodevelopmental disorders like epilepsy and autism.

Help us #CureSCN2A💜💙💚

2) Got official notice on the publication of #Cambridge Elements on #SCN2A! It's sort of like an encylopedia on SCN2A-related disoders that I had the BIG honor and priveledge of co-authoring. Read it here: www.scn2a.org/pdf/scn2arel...

📆 Save the date ‼️

The third 🌍 #SCN2A & #SCN8A Scientific Conference & Family Gathering will be held on May 16th-17th, 2025 💜

Venue: Kranz Parkhotel, Siegburg/Bonn 🇩🇪

More info will follow soon ‼️

#Epilepsy 🧠 #Genetics 🧬 #StrongerTogether 😍

@scn2a.bsky.social @scn8a.bsky.social

✨ Big News! ✨
Seize the Moment. Move Mountains for SCN2A!
We’re thrilled to announce that our 7th Family & Professional Conference is coming to Denver, Colorado on July 31-Aug 2, 2025! More details coming soon! 💙💚💜
#SCN2A #cureSCN2A #genetics #geneticeilepsy #autism #epilepsy

Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy