Protocol and Recruitment. Here we present a comprehensive and feasible protocol for evaluating the natural history of STXBP1 (STARR) and SYNGAP1 (ProMMiS) using existing outcome measures within the framework of a clinical visit. Recruitment is ongoing, with n=323 individuals evaluated to date. Study protocol includes standardized clinical assessments, parent-reported outcomes, quantitative EEG and movement sensors, and detailed seizure histories. Consortium structures have been established for both studies allowing data generation from multiple sites in an FDA-compliant format for collaboration with industry partners, advocacy organizations, and researchers.

Preprint alert 🚀

Our new paper outlines a prospective NHS protocol built to support clinical trial readiness in SYNGAP1 and STXBP1.

The protocol already powers STARR and ProMMiS.

🔗 www.medrxiv.org/content/10.6...

#SYNGAP1 #STXBP1 #DEE #ClinicalTrials

We work through it with poetry, always.

#nonverbal #syngap1 #poetry #poetrysky

Two exciting PhD opportunities available to start in April 2026!

Mixed-methods explorations of #sleep and #co-sleeping amongst children with #IntellectualDisability #SYNGAP1 and their #caregivers

Apply now: www.findaphd.com/phds/project...

www.findaphd.com/phds/project...

Genetic Defect Linked to Autism and Epilepsy Corrected Scientists develop gene therapy reversing autism and epilepsy symptoms in mice with SYNGAP1 disorders, offering hope for effective human treatments.

Genetic Defect Linked to Autism and Epilepsy Corrected

Scientists develop #GeneTherapy reversing #autism and #epilepsy symptoms in mice with #SYNGAP1 #disorders, offering hope for effective human treatments.

www.disabled-world.com/health/neuro...

Families power research! New #SYNGAP1 surgical study shows how your medical journeys can drive discovery 🧬💙 @curesyngap1.bsky.social #DEE #Epilepsy #Neurodevelopment #Seizures #RareDisease #AccelerateCures www.sciencedirect.com/science/arti...

Rose's Cleaning is proud to be a part of Beacon of Hope: A Benefit for SynGAP1 on September 12 at the Fairmont Copley Plaza in Boston at 6:30pm.
To learn more about SynGap1 and this event please visit the website below! bit.ly/4n7e5tG
#syngap #syngap1 #fundraiser

Serendipity in Science: New Uses for Old Drugs Repurposing currently FDA-approved drugs fast-tracks treatments for epilepsy, including the treatment of rare forms of epilepsy.

🧬🔬💊 A hopeful discovery: phenylbutyrate, an existing FDA-approved drug, may help reduce #seizures in rare #genetic epilepsies like #SLC6A1 and #SYNGAP1.

This could speed up treatment timelines for families urgently seeking options. Learn more: https://bit.ly/3H8Le8H

#dnarepair #neurobiology #syngap1 #hdr #dsb #neurons

SYNGAP1-related disorders are typically due to de novo variants but are inherited in a small subset of individuals.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #ACMGvariantclassification #developmentalandepilepticencephalopathy #eyelidmyoclonia #synapsedisorders #SYNGAP1

💡Rare Disease Spotlight: SYNGAP1-Related Disorders

Learn more about this rare disease with our latest article checkrare.com/the-current-...

#CheckRare #RareDisease #SYNGAP1 #RareNeurology #RareGenetic

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

checkrare.com/camp4-therap...

#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1

Turun yliopiston tutkijoille lisärahoitusta harvinaisen neurologisen kehityshäiriön tutkimukseen Dosentti ja InFLAMES-tutkija Pekka Postila Turun yliopistosta on saanut 120 000 euron rahoituksen kalifornialaiselta SynGAP Research Fund (SRF) -säätiöltä SynGAP1-proteiinin mutaatioiden vaikutuste

Harvinaisen lasten kehityshäiriön tutkimus Turun yliopistossa saa jatkoa uusien rahoitusten tuella. Tutkijoidemme kohteena on sairaus, joka aiheuttaa moninaisia ja vakavia hermostollisia oireita.

#SynGAP1 #NSID

@inflames-flagship.bsky.social @curesyngap1.bsky.social

Gotta post a couple cute pics of the kid! Man, we have been tethered to our house SO much this last month. Can't believe we had two bouts of illness and isolation! But the weather is lovely, we weren't sick for long and have been biking again. I think it was rare disease day yesterday? #syngap1

Mouse model unveils dynamics through which SYNGAP1 gene supports cognitive function The SYNGAP1 gene, which supports the production of a protein called SynGAP (Synaptic Ras GTPase-Activating Protein), is known to play a key role in supporting the development of synapses and neural ci...

#Mouse model unveils dynamics through which #SYNGAP1 #gene supports #cognitive function.

medicalxpress.com/news/2025-02...

Hi. Quick intro. That's me, Eddie, on the floor. That's my youngest kiddo Kenji in the chair. He's a rascally teenager with disabilities caused by genetic mutations. His diagnosis is called #syngap1 and comes with epilepsy, autism, adhd, developmental delays and behavioral issues. He is my why.

Wunderland arcade scenes from last weekend. My car vs Kenji's. His is SO extra. 🤣 and our selfies. #kenjisworld #syngap1

Seizures and epilepsy are serious symptoms of #SYNGAP1 syndrome, which arises from LoF mutations in the gene. Our finding has important implications in the treatment of this condition because it shows that the structural role of SYNGAP1 will need to be rescued by therapies.

Excited to share our new preprint on #SYNGAP1 that shows how its enzymatic and structural role can be dissociated! The GAP activity is essential in increasing intrinsic excitability but does not contribute to the seizure protection SynGAP is important for: biorxiv.org/content/10.1...

AES 2024: THE FUTURE IS NOW — DRACAENA The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and ...

Here are my highlights from the progress that we saw at #AES2024 for rare epilepsy syndromes:
1 - The future is now: tangible progress in disease-modification
2 - Beyond seizures in DEEs
3 - Beyond the largest DEEs

www.draccon.com/dracaena-rep...
#Dravet #SYNGAP1 #STXBP1 #CDKL5

Looking forward to getting into LAX early to catch up with the traditional #SYNGAP1 Conference by @curesyngap1.bsky.social and the #Dravet Roundtable by @curedravet.bsky.social both on December 5th just before #AES2024

Who else is coming? 💚

Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition Libé-Philippot et al. investigate the mechanisms underlying the prolonged synaptic development characteristic of human cortical neurons. They demonstrate that the human-specific genes SRGAP2B/C are re...

Hi Bluesky 🧪🧠,
Let me introduce my second postdoctoral piece published a couple of weeks ago, under the direction of @vanderhaeghenp2.bsky.social, with @franckp.bsky.social and Cécile Charrier, in #Neuron @cellpress.bsky.social 🧵:
doi.org/10.1016/j.ne...
#neuron #neoteny #human #SYNGAP1

Today was a good day. Took Tony to SF and explored. No need to make it complicated with special needs. Just grateful to have a day with my son. #SYNGAP1

Up at 2am settling my child. Love is #specialneeds #syngap1 #curesyngap1 ❤

Monica Weldon @mlweldon5 (founder of #SYNGAP1) notes that #raredisease researchers appreciate having their work promoted on social media.