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
💜💚💙
09.04.2025 20:16 — 👍 3 🔁 0 💬 0 📌 0
📣 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...
09.01.2025 19:01 — 👍 6 🔁 0 💬 0 📌 2
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
17.12.2024 20:33 — 👍 1 🔁 1 💬 0 📌 0
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!
12.12.2024 21:35 — 👍 5 🔁 0 💬 0 📌 1
We look forward to seeing you soon!
27.11.2024 23:36 — 👍 1 🔁 0 💬 0 📌 0
JUST PUBLISHED! Cambridge "SCN2A-Related Disorders" Written and edited by leading experts, this comprehensive review explores the clinical spectrum, genetics, and therapeutic advances surrounding SCN2A-related conditions. Open access made possible by FamilieSCN2A. www.scn2a.org/pdf/scn2arel...
22.11.2024 20:55 — 👍 8 🔁 2 💬 0 📌 0
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
12.11.2024 18:35 — 👍 9 🔁 3 💬 0 📌 0
Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency
Dysfunction in the gene SCN2A , which encodes the voltage-gated sodium channel Nav1.2, is strongly associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disa...
New paper from @selinsch.bsky.social in collaboration with @alexkwan.bsky.social
doi.org/10.1523/ENEU...
Scn2a loss is a major ASD/ID risk, and it brings along comorbidities like epilepsy. Selin found that mouse models do just fine in foraging tasks, but the associated water restriction ⬆️ seizure
30.12.2023 19:05 — 👍 13 🔁 2 💬 0 📌 1
✨ 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
22.11.2024 14:09 — 👍 6 🔁 2 💬 0 📌 0
Eliana’s Mom. Advocate and Trustee for FamilieSCN2A Foundation. Special Education Teacher. Sports Lover.
On the CDKL5 in Color podcast you'll hear lessons learned direct from parent caregivers of children living with #CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. www.CDKL5inColor.com
#CDKL5 🧬 | Former school social worker turned stay-at-home medical mama | 🎙️Producer, content creator, & co-host of the CDKL5 in Color Podcast @cdkl5incolor.bsky.social
www.CDKL5inColor.com
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
https://TheRDDR.org
RDDR is an invaluable resource dedicated to the storage, organization, and dissemination of rare disease research datasets.
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰
I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
Clinical Research IT for Epilepsy & Rare Diseases
Natural Hx Studies, Patient Registries, Electronic Data Collection
Creator of The CRID and The RDDR
Web: https://clirinx.com
Improving diagnosis, treatment and care of those living with #CACNA1C related disorders including #TimothySyndrome and #LongQT8.
Registered charity no: 1185523. NGO Source certified 501(c)(3) equivalency determination. https://linktr.ee/cacna1c
I am a neuroscientist at Johns hopkins University interested in the molecular mechanisms underlying learning and memory in health and disease.
Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate.
www.cacna1a.org
Scientist. Advocate. Nerd.
Scientific Director at Dravet Syndrome Foundation since 2020. PhD in Cell, Stem Cell, and Developmental Biology from University of Colorado Anschutz Medical Campus.
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
Interested in how proteins are made and maintained in cells | #Membraneprotein, #ERAD, #molecularchaperones, #ubiquitin #signalling | Now: Postdoc @MRC-PPU, Dundee | Prev. Postdocs: LKC-NTU, SG and Dunn School @Oxford | BSc and PhD: WEHI, UniMelb, AUS.
Patient advocacy group serving those affected by CHD2, a rare developmental & epileptic encephalopathy (DEE) associated w/Jeavons/EEM, photosensitive seizures, autism + intellectual disability. Accelerating research & supporting community www.curechd2.org
Rare disease advocate; nonprofit leader; tuberous sclerosis complex mom; SYNGAP1 sister. Committed to advancing human rights, trans rights, social justice, equity/belonging. Views mine
Neuroscientist at UCSF.
Studies everything related to neuronal ion channels—their modulation, their role in neuronal integration, and the intersection between these functions and neurodevelopmental and neuropsychiatric disorders.
off-message autistic researcher
Automated Tracking of the Missouri State Legislature
For any question, concerns, or feedback please reach out to @lukekrewson.bsky.social
For federal bill tracking follow @congresstracker.bsky.social
Qualitative health communication researcher with a focus on rare epilepsy. Assistant Professor of Communication. LGS sibling. Founder, LGS Foundation; Board, Coalition to Cure CHD2; Advisor, FamilieSCN2A; Chair, Rare Epilepsy Network. LI, NYC & CT
