Attending EURORDIS Open Academy #openacademy2023

Omega looking to find a twin for its Canyon-2 high grade Permian deep gas well ⚒💸💸

See you in Denmark at the #SCN2A and #SCN8A conference!

Excited to be heading out to Køge 🇩🇰 to meet some of the #SCN8A & #SCN2A communities. Talking about how to combine what we learn from each person with #RareDisease to generate data that improves future care.

Time for my first personal post on science Twitter: two weeks ago, I (successfully) defended my master’s thesis titled “Functional roles of SCN2A countercharge mutations in developmental epileptic encephalopathy” 🧠

Humbled to receive a grant award from MDBR The Orphan Disease Center @ UPenn for Development of novel gene therapy strategies for treatment of all SCN2A Disorders Fired up to be collaborating with Kevin Bender Started as a conversation at GRC Synaptic Transmission is now reality Iowa Neuroscience Institute Carver College of Medicine

#GatlinburgCon We were excited to present: Novel Approaches to Measurement for Severely Affected Children With #SCN2A - Associated Developmental and Epileptic Encephalopathy, and how #GAS was used to capture clinically meaningful changes in the SNC2A population #RareDisease

Had so much fun riding with the #SCN2A Warriors today in the #PennMedMDBR2023 ! Thanks to all who supported me and the whole team to raise funds for critical research! 💜💙💚

Yang Yang & Lab Purdue Pharmacy Purdue MCMP Eric Barker Zhang Lab Purdue Life Sciences Purdue University Well deserved, Yang! Congratulations to you and to the #scn2a community! FamilieSCN2A

Kraken's multi-tier security approach includes 2FA, encryption, and cold storage to ensure your assets are always safe.

SCN2A – here is what you need to know in 2023 | Beyond the Ion Channel

⁦FamilieSCN2A⁩ ⁦SCN2A Asia Pacific⁩ ⁦University of Pennsylvania Neurology⁩ ⁦CHOP Department of Biomedical & Health Informatics⁩ epilepsygenetics.net/2023/02/24/scn…

Leah representing SCN2A as a Plenary speaker at Global Genes Rare Drug Development Symposium

FamilieSCN2A
#SCN2A
#Raredisease
#Cure

...here is our blog post for International #SCN2A Day

Stacey Cohen summarized what is new in SCN2A

...and we updated our SCN2A #Epilepsiome gene page

epilepsygenetics.net/the-epilepsiom…

SCN2A SCN2AAustralia SCN2A Europe SCN2A Families UK SCN2AAlliance SCN2A

Europe’s second SCN8A&SCN2A conference and family gathering. It has been an amazing meeting, both under the scientific, personal and gathering point of view. Thank you all the participants and family associations

Excited to have been awarded the Michigan Medicine Neurology pilot grant! Together with Eva Feldman, MD, PhD, Rodica Busui MDPhD & Dr. Martin Myers we will study the role of the voltage-gated sodium channel gene Scn2a in #diabetic #neuropathy . Thank you Dawn Kleindorfer, MD Todd Lab @UM for this opportunity!

deb armstrong Yana ❤️🌸 Lovable Liberal and his Old English sheepdog My grandson, 4yrs, has an SCN2A mutation, which caused his autism. It can also cause uncontrollable seizures.

Ensure your organization is taking full advantage of the opportunities of AI technologies. tinyurl.com/2covt47v

We want to thank our #SCN2A sponsors: Praxis Medicines, Thisbe & Noah, Neurocrine Biosciences, Rosamund Stone Zander TNC, CZI Science, GeneDx, Simons Foundation, Longboard Pharma, Autism BrainNet, CURE Epilepsy, Ovid Therapeutics and Invitae. If you would like to become a sponsor, reach out to Leah

I am incredibly proud of our current and former research fellows who presented their work at the 2nd European #SCN2A and #SCN8A conference 😍

Wonderful talks by Roberto Previtali caterina ancora Sopio Gverdtsiteli Francesca Furia Angelica & Margherita 👏💪

#ProudPI #StrongerTogether

Showing off our new #SCN2A hats!

⁦Leah⁩ ⁦FamilieSCN2A⁩

Denmark or bust! #scn2a #scn2a conference #raredisease #teamworkmakesthedreamwork

New findings – Autistic individuals with certain genetic variants often experience more sensory issues. #ADNP , #CHD8 , #DYRK1A show sensory seeking, #SCN2A has sensitivities, and #GRIN2B shows fewer avoidance behaviors. Read on: link.springer.com/article/10.100…

#AutismResearch #Genetics

Today is SCN2A Awareness Day! At n-Lorem we celebrate our SCN2A warriors everyday. #InternationalSCN2AAwarenessDay

Happy Father's Day! And especially to our SCN2A Dads 💜💙💚