CURE SYNGAP1 PODCAST aka SYNGAP10

Friday, September 11, 2026 — Week 37 CAMP4 — ASCEND EXPANDS TO THE UK UK MHRA authorizes UK sites in CAMP4's Phase 1/2 CMP-002 trial. UK joins Australia + Argentina. EU filing remains under review. First-in-human trial still targeted to begin Q4 2026. Another major step toward our first disease-modifying clinical trial. https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-receives-authorization-united-kingdom-phase CAMP4 ANALYST DAY — SEPT. 28 12–1:30 PM ET. Trial design + unmet need + early pipeline. CURE SYNGAP1 participating https://investors.camp4tx.com/news-events/events We will have a day after, webinar, stay tuned for details. USA TODAY — SYNGAP1 IN PRINT SYNGAP1 family story appeared in USA TODAY's national print edition this week. Families need education, care + support TODAY. https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/ RARE-X + CITIZEN HEALTH Global Genes selects Citizen Health technology to power RARE-X. Important for us: ProMMiS uses Rare-X; CURE SYNGAP1 already works with Citizen. https://www.prnewswire.com/news-releases/global-genes-partners-with-citizen-health-to-power-rare-x-302870871.html SIX THINGS U.S. FAMILIES CAN DO Our Take Action page is LIVE. Don't just read it. Keep coming back until you've done all six. https://curesyngap1.org/TakeAction IEP HELP — CITIZEN HEALTH Oct. 4: IEP deep dive + Q&A with Staci Zimmerman, M.Ed. Register https://curesyngap1.org/calendar/what-nobody-tells-you-about-ieps-citizen-health-webinar/ RESEARCH — HELP WANTED 2-year SYNGAP1 postdoc — Sapienza University of Rome. Patient iPSCs, cortical neurons + brain organoids. Deadline Sept. 30. Know someone? Amplify it. https://www.sins.it/job_offer/postdoctoral-position-available-at-sapienza-university-of-rome/ COMMUNITY QUICK HITS NEW WARRIOR: Felipe, age 3. Parents Brian + Alana organizing Fight for Felipe. Want to fundraise? New support form: https://cureSYNGAP1.org/Fundraise Café SYNGAP1 #40 + #41: GRIN2A + GRIN2B communities. https://cureSYNGAP1.org/Cafe Night of Impact recap live. Time to start planning the next one. https://cureSYNGAP1.org/SF26Recap UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 64 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 78 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 83 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,240 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.62k YouTube https://www.youtube.com/@CureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 219 of #Syngap10 #SYNGAP1 #RareDisease #CureSYNGAP1 #PatientAdvocacy

Tuesday, September 8, 2026 — Week 37 DON’T MISS ASO UPDATE Episode 217 came out over the weekend. Don't miss it. There was lots of ASO news in there. https://www.linkedin.com/feed/update/urn:li:activity:7502544874399928322/ NATIONAL PRESS USA TODAY Special-needs care / education crisis — and a SYNGAP1 family featured. Diagnosis and future therapies aren't enough. Families need care, education and support today. https://www.linkedin.com/posts/bernadette-basilico-6924b29a_a-two-year-postdoctoral-position-with-share-7500493855591432192-sOD6/ https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/ ADVOCACY UPDATE SYNCHRONY — PALO ALTO KAH + I attended the BRAIN Foundation's Synchrony symposium. The autism community is starting to wake up to neuroinflammation, and mental health psychiatrists are really working hard on this topic. There are also people looking more at the impact of diet. https://brainfoundation.org/synchrony-symposia/ ILAE #EEC2026 — ATHENS Virginie + Jaime + Vicky + Katrine representing SYNGAP1 at the 16th European Epilepsy Congress, Sept. 5–9. https://www.ilae.org/eec2026 Virginie’s Post: https://www.linkedin.com/posts/virginie-mcnamar_eec2026-ugcPost-7502600886368559105-LPbu/ THINGS YOU CAN DO RIGHT NOW GENEDX SURVEY How has getting a SYNGAP1 diagnosis improved your child's care? 5 minutes. Worth it. Please do it. https://curesyngap1.org/GDXsurvey ARI / CITIZEN HEALTH Sign up. Longitudinal medical records → research-ready data. This is clearly the future. https://citizen.health/ari/syngap1 SYNGO SYNGAP1 resource for families from LATAM, ask it to speak English! https://curesyngap1.org/syngo COMMUNITY GROWTH AND SUCCESS CURE SYNGAP1 PORTUGAL 🇵🇹 Congratulations to the Portuguese SYNGAP1 community — legal organization established + website live. Special applause for Henrique’s leadership. Another national organization building local advocacy and community. https://curegyngap1-portugal.org/en SCRAMBLE FOR SYNGAP — SOLD OUT Congratulations to the Scramble team — the 5th Annual Scramble for SYNGAP is SOLD OUT. 25 days to go. A great example of a community building momentum year after year. https://mailchi.mp/796f3e59d71b/the-scramble-for-syngap-is-sold-out?e=b5a3afc6ba UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 67 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 81 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 86 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 PUBMED 50 SYNGAP1 publications in 2026. +13 vs. Week 37. https://pubmed.ncbi.nlm.nih.gov/42692765/ Last year finished at 61 publications — +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,220 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.61k YouTube https://www.youtube.com/@CureSYNGAP1 11.1k X https://x.com/cureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 218 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy

Sunday, September 6, 2026 — Week 36 🛑 If you're reading this on social media, these show notes are going to get cut off. Please go to the podcast homepage and click on episode 217 to get the full show notes. https://curesyngap1.org/podcasts/syngap10 ALEXANDER DISEASE On September 3, the FDA approved ZANVASTRO — zilganersen — from Ionis (IONS) for Alexander disease. It is the first FDA-approved treatment for Alexander disease and the first therapy to directly target the underlying protein buildup driving the disease. Alexander disease is caused by mutations in GFAP. Zilganersen reduces production of abnormal GFAP protein. https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-alexander-disease ANGELMAN — ULTRAGENYX ASPIRE FAILS On September 2, Ultragenyx (RARE) announced results from its Phase 3 Aspire trial of apazunersen, formerly GTX-102, for Angelman syndrome. The trial failed its primary endpoint — change from baseline in Bayley-4 cognitive raw score. It also failed its key secondary endpoint — the Multidomain Responder Index, or MDRI. And there were no differences between the treated and control groups supporting efficacy in Bayley cognition, the MDRI, or any of the five individual domains that make up the MDRI. https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-phase-3-aspire-results-angelman-syndrome WHAT HAPPENED? Financial analyst take on the failure was brutal: “A complete double miss, with no data to argue about.” But this does not conclude that the underlying Angelman ASO strategy has been disproven. Broader read-through: “We think the mechanism still works, and the constraint was dose.” GTX-102 had a history of transient lower-extremity weakness. OAK HILL BIO (RACC) BASICALLY CALLED IT (Good to have multiple shots on goal.) Look at slides 10 and 11 of Oak Hill Bio's July investor presentation filed with the SEC. Oak Hill had already been making the case that the Angelman ASOs are not interchangeable. On slide 10, Oak Hill presents primate data showing nearly full restoration of paternal UBE3A production after a single dose of rugonersen, versus a much more modest reported effect from GTX-102. Importantly, Oak Hill itself notes that this was not a head-to-head study. Then look at slide 11. Oak Hill presents data claiming rugonersen is 20–100 times more potent at inducing UBE3A protein than the other Phase 3 Angelman ASOs. And its description of the Ultragenyx molecule is remarkably direct: “GTX-102 was dose limited.” These are Oak Hill's claims and company-presented preclinical data — but they made this argument before Aspire failed. https://www.sec.gov/Archives/edgar/data/2118032/000119312526316954/d101725dex992.htm THIS IS WHY PHASE 3 MATTERS Ultragenyx had encouraging earlier-stage data. Families appeared to be seeing improvements. Investigators saw improvements. The company saw improvements. Then came a randomized, sham-controlled Phase 3 trial. And it did not confirm efficacy. That is an important lesson for all of us in rare disease drug development: Phase 1/2 data are not Phase 3 data. THE NEW YORK TIMES — GETTING TO A CLINICAL TRIAL IS HARD There was also a New York Times piece this week that I think everyone following drug development should read. How extraordinarily difficult it has become to actually run clinical trials and get experimental medicines into patients. That means companies are looking outside the United States for places where trials can move more efficiently. CAMP4 has regulatory clearance to begin its first-in-human SYNGAP1 trial in Australia and Argentina. That's not an accident. The geography of clinical drug development is changing. The New York Times article is largely looking at this through the lens of cancer drug development today — but rare genetic disease is confronting the same challenges. Cancer today → rare genetic disease tomorrow. — read this article. NEW YORK TIMES — GIFT LINK: https://www.nytimes.com/2026/09/04/opinion/clinical-trials-drugs-science.html?unlocked_article_code=1.-lA.gxCw.n2L6DEBVdtFd&smid=nytcore-ios-share ANGELMAN COMMUNITY IS A MODEL One more thing. A failed Phase 3 trial is devastating for a patient community. AB https://www.linkedin.com/feed/update/urn:li:share:7501449189785022464/ TJB https://www.linkedin.com/feed/update/urn:li:activity:7501404380412145665/ UPCOMING EVENTS — COUNTDOWN SCRAMBLE FOR SYNGAP — 27 DAYS October 3 — Greer, South Carolina 5th Annual Scramble for Syngap https://cureSYNGAP1.org/Scramble SHOOT FOR SYNGAP1 — 69 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 83 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 86 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 PUBMED 50 SYNGAP1 publications in 2026. +14 vs. Week 36. The newest publication comes from a team in India. https://pubmed.ncbi.nlm.nih.gov/42692765/ Last year finished at 61 publications — +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,219 LinkedIn — +24 since Episode 216. https://www.linkedin.com/company/curesyngap1 1.61k YouTube https://www.youtube.com/@CureSYNGAP1 11.1k X https://x.com/cureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 217 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy

Sunday, August 30, 2026 — Week 36 TRIALS & DATA — CAMP4, RARE-X + ProMMiS CAMP4 / CMP-002 Australia and Argentina cleared. EU and UK filings underway. First-in-human Phase 1/2 study still targeted for Q4 2026. CMP-002 is designed to increase expression of the healthy SYNGAP1 copy. CAMP4 raised another $50M and reports cash runway through the end of 2028. Q2 earnings / corporate update: https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-second-quarter-2026-financial-results-and Rare-X + ProMMiS Rare-X is our PRO partner for the ProMMiS Natural History Study. IMPORTANT: Families participating in ProMMiS need to complete their Rare-X surveys within SEVEN DAYS of their ProMMiS Natural History Study visit date. We need the patient/caregiver-reported data to line up with the clinical visit data. ProMMiS: https://curesyngap1.org/resources/studies/syngap1-prommis/ Rare-X: https://cureSYNGAP1.org/RAREX ARI WEBINAR If you missed the Ari webinar, the recording is now available. https://cureSYNGAP1.org/AriWeb FUNDRAISE WITH US Please call us to set up your fundraisers. Please do not use Facebook fundraising unless it's an emergency. CURE SYNGAP1 ON THE ROAD — BRAIN FOUNDATION Kathryn and I are attending the BRAIN Foundation’s Synchrony 2026 scientific summit in Palo Alto. A chance for CURE SYNGAP1 to stay close to work happening across autism, neurology, genetics, biomarkers and therapeutics. https://brainfoundation.org/synchrony-symposia/ ILAE — EUROPEAN EPILEPSY CONGRESS Virginie is heading to Athens for the 16th European Epilepsy Congress, September 5–9. If you are going to be at the ILAE meeting in Athens, Greece, reach out to Virginie and connect with CURE SYNGAP1 in person. https://www.ilae.org/eec2026 UPCOMING EVENTS — COUNTDOWN SCRAMBLE FOR SYNGAP — 34 DAYS October 3 — Greer, South Carolina 5th Annual Scramble for Syngap https://cureSYNGAP1.org/Scramble SHOOT FOR SYNGAP1 — 76 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 90 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 95 DAYS December 3–4 — Denver, Colorado Early bird pricing ends August 31! https://cureSYNGAP1.org/Reg26 PUBMED PubMed 2026 is at 49. +2 since Episode 214. +13 vs. the week. Last year finished at 61, +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Coolest new paper: TBE on EEG. https://pubmed.ncbi.nlm.nih.gov/42620081/ USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,195 LinkedIn. +36 since Episode 214. https://www.linkedin.com/company/curesyngap1 1.61k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 216 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Tony with us for a week after five months away… Way less screen addicted More independent Chubby - Less exercise, worse food Depressed Adam’s Camp was great as usual The support model was striking: the camper-to-therapist ratio was close to one-to-one, with skilled professionals in speech, occupational, physical, and behavioral therapy. SYNGAP1 Connection at Camp! This was Tony’s fifth consecutive year at https://adamscamp.org/ . That continuity made a difference. The Adam’s Camp team knew Tony well, and he was a known quantity to them. The team did a fabulous job. Even though Tony can be challenging at this age, and is bigger and sometimes aggressive, everything went smoothly at camp. More time in Denver. We visited Dr. Abbott at CHOC. For families looking for pediatric dental support in Denver, see Dr. Z at https://www.lakesidekidsdentistry.com/ . Who will also start seeing kids at https://www.childrenscolorado.org/doctors-and-departments/departments/dental/ The hard parts There were still a couple of moments of aggression within our family. I do not want to pretend those moments disappeared; there is more work to do. The harder news came after Tony returned to school. His unhappiness about being there has increased after being with family, and it feels as though aggression may be moving in the wrong direction again. We are told this kind of transition is common for kids at his school, but that does not make the incident reports any less heartbreaking. Bringing him back was heartbreaking. Lorazepam. Open Questions What stayed with me is how well Tony did with people who knew him and a deeply skilled team supporting him. At his residential program, he also receives remarkable support. But at the end of the school year, he is expected to come home, and we are expected to recreate enough of that support with ABA and whatever additional help we can find. I do not have a neat conclusion. I am trying to understand what is best for Tony, what is best for John, and what is best for our whole family. I am sharing these questions because I suspect many families carry versions of them too. Related episodes & resources For the earlier Adam’s Camp conversation, watch #S10e110 https://www.youtube.com/watch?v=WBBEZPLRaBQ For the residential-care update, watch #S10e208 https://www.youtube.com/watch?v=ywDUuuGA8GA For a fuller personal conversation about this chapter in Tony’s life, listen to https://curesyngap1.org/podcasts/syngap1-stories/mike-graglia-may-2026-update Learn more about https://lakemary.org/ . Both the Adam’s Camp team and Dr. Z from Lakeside will have a booth at the CURE SYNGAP1 Conference in Denver on December 3–4. Stop by to learn more and meet the team. https://curesyngap1.org/calendar/cure-syngap1-conference-2026-denver/ Like and subscribe to the CURE SYNGAP1 Podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Saturday, August 29, 2026 — Week 35 Episode 215 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy #Caregiving #DisabilitySupport #FamilyCaregiver #CaregiverSupport

Monday, August 10, 2026 - Week 33 Make sure to watch #S10e213 first! https://www.linkedin.com/posts/curesyngap1_camp4-trial-approved-in-australia-argentina-activity-7491598254027984896-wWTg 145 done! Out of 516 in US per last census: ( https://www.linkedin.com/posts/curesyngap1_syngap1census-syngap1-census-activity-7478070129340215296-6Hjx ) CLINICAL TRIAL READINESS SURVEY - http://curesyngap1.org/CTRpoll Do it now, let us figure out the state of our community. CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1 Everyone with a sick kid needs this. Different from CONNECT: https://curesyngap1.org/curesyngap1connect Make sure we know how to reach you. STUDIES ARE HAPPENING - Albus, thank you to those families. Plug it in. - Combi[o]mics - Thank you for doing this if invited. - Everyone will get an invite to do an ORCA Validation Study, please do this. If you don’t get that email by end of August, bug us. We are only inviting those we can confirm have a mutation. PERSONAL FUNDRAISERS Fundraisers advance our mission & help you connect to community #ForAda curesyngap1.org/forada is over $104k of $10k #4Ford curesyngap1.org/4ford is over $20k of $20k SIBLINGS - Go Porter! cureSYNGAP1.org/Sibling THINGS TO LOOK FORWARD TO… 5TH SCRAMBLE FOR SYNGAP, SC – 54 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SHOOT FOR SYNGAP, UT – 96 days till November 14th curesyngap1.org/calendar/shoot-for-syngap1 FIGHT FOR FELIPE, MA - 111 days till November 29th curesyngap1.org/Fight26 CURE SYNGAP1 CONFERENCE - 115 days until December 3rd & 4th cureSYNGAP1.org/Reg26 rooms available: ‭ cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. PUBMED Pubmed 2026 is at 47. +14 vs the week. (61 last year was +9) We are already at the 3rd highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,159 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.6k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 214 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, August 7, 2026 - Week 32 CAMP4 - Gaining momentum - Approval for trials in Australia & +$50M of cash from investors: https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-secures-australian-regulatory-clearance - Profile on CNBC Cures: https://www.cnbc.com/2026/08/06/camp4-advances-rare-disease-treatment-for-syngap1-into-human-trials.html Where they mentioned approval in Argentina! $CAMP closed at $4.53 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ MAKE SURE YOU ARE REGISTERED WITH CONNECT https://curesyngap1.org/curesyngap1connect/ USA 🇺🇲: Use your ICD-10, F78.A1 CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1 SOCIAL MATTERS 5,156 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.6k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 213 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

#Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212 Saturday, July 4, 2026 - Week 27 #Future4Ford! Already at $3,500+! Share. Thank you to the Family. This is the model for newly diagnosed, call us, set up a page, help us help your loved one. cureSYNGAP1.org/4Ford CENSUS - 1,806 https://curesyngap1.org/blog/syngap1-census-2026-update-45-q2-total-1806/ Per https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?usp=sharing , no change in Germany, UK, or Netherlands. This is clearly wrong. MERCH - 9 days left! New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire CAMP4 has been busy! Meeting with one of our families: https://www.linkedin.com/posts/syngap1-share-7473374060614201345-SeKO/ Shoutout on NASDAQ: https://www.linkedin.com/posts/camp4-therapeutics_syngap1awareness-regrna-syngap1-activity-7474823632972820480-UMqi $CAMP closed at $4.43 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ BONES – This is not medical advice, I am not a doctor. Talk to a doctor AND know your facts. https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/ Valproate is the active Ion, it comes from Valproic Acid (Depakene), Sodium Valproate or Divalproex Sodium (Depakote). They all cause bone loss by stoping stomach from absorbing, then robbing bones, then flushing out. More and longer is worse. Vitamin D and Calcium can help but they need to start early and it’s better to just find another drug. Also insurance likes it because it’s cheap and old – demand better. “Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, aripiprazole, and guanfacine were commonly used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications.” Clinical signatures of SYNGAP1-related disorders through data integration https://pmc.ncbi.nlm.nih.gov/articles/PMC12419475/ THINGS TO LOOK FORWARD TO… 5TH SCRAMBLE FOR SYNGAP, SC – 91 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SHOOT FOR SYNGAP, UT – 133 days till November 14th curesyngap1.org/calendar/shoot-for-syngap1/ FIGHT FOR FELIPE, MA - 148 days till November 29th curesyngap1.org/Fight26 CURE SYNGAP1 CONFERENCE - 152 days until December 3rd & 4th cureSYNGAP1.org/Denver rooms available: ‭ cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. PUBMED Pubmed 2026 is at 40. +13 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Thanks to Dr. Stephen Smith for this exciting paper, especially in the context of ASOs… Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation https://pubmed.ncbi.nlm.nih.gov/42362191/ USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,106 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.59k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 26, 2026 - Week 26 BIO was good. Need a mouse lab to test molecules all year long. https://www.linkedin.com/posts/graglia_syngap-syngap1-mousemodels-ugcPost-7476041484408901633-Zldd/ MDBR was big, not just Justin A.! Thank you Dr. McKee, Heather and others. cureSYNGAP1.org/MDBR26Recap MERCH - 19 days left! New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire GENETIC TESTING Valuable resource as you have questions. curesyngap1.org/GT WARRIORS - Phoenix and Kenna cureSYNGAP1.org/Warrior THINGS TO LOOK FORWARD TO… WEBINAR: Understanding ASOs & Informed Consent June 30 4:30 ET curesyngap1.org/calendar/understanding-asos-informed-consent/ 5TH SCRAMBLE FOR SYNGAP, SC – 99 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SHOOT FOR SYNGAP, UT – 141 days till November 14th fb.watch/HRnwf9FnEB/ FIGHT FOR FELIPE, MA - 155 days till November 29th curesyngap1.org/Fight26 CURE SYNGAP1 CONFERENCE - 159 days until December 3rd & 4th cureSYNGAP1.org/Denver rooms available: ‭ cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. PUBMED Pubmed 2026 is at 38. +12 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Props to Dr. Frazier for yet another paper on SYNGAP1 based on his study, one of the best grants ever. https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70337 USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,074 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.59k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.8k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $3.92 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 211 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 19, 2026 - Week 25 June 21 is SYNGAP1 Awareness Day, but we have made it SYNGAP1 Awareness month! Why 6/21? Because 6p21.32 Donate! cureSYNGAP1.org/Donate #ThisIsOursToLose & #BurdenHopeProgress watch #S10e208 https://curesyngap1.org/podcasts/syngap10/tony-update-thisisourstolose-more-great-results-from-camp4-nightofimpact-in-9-days-s10e208/ New family email, very good, lots of questions. It’s all here. Reach out, we are here for you and you are welcome in this community – you are part of it whether you like it or not. Raise money. Join our host committee for 2nd SF event next year. Believe that we are doing the best we possibly can, and you would be adrift without a PAG. If you think this is painful, imagine if we weren't here! Register for the Conference. Book tickets to DEN now. cureSYNGAP1.org/Denver Join us -- make this org better for all of us and all our kids for all their lives. Complex work doesn't fit neatly in 10 minutes anymore... Health Economics and Market Access work is going well, we will put out an RFP shortly. NATURAL HISTORY Goes On! Make sure you are in it. https://curesyngap1.org/resources/studies/syngap1-prommis/ Orlando/McKee Grant "Validating Remote Developmental Assessments in SYNGAP1-Related Disorders" cureSYNGAP1.org/PR49 🤖 ARI Sign up now, s/he keeps getting better, and then connect to Citizen Health, if you are not on Citizen Health, fix that. https://www.citizen.health/ai-advocate/syngap1 https://ari.citizenhealth.com/ KUDOS - The fifth MDBR, Justin Albrecht rode 70 remote in NC. Raised $2k. - Rachel Jasiczek (Yah-she-check) was a guest on Remarkable Futures Podcast - https://open.spotify.com/episode/7dYmHcXEu58H4C8VCoZ9V1?si=x3xvui86TY2cyGHyS3mGDQ - Collective: CURE SYNGAP1 Collective - cureSYNGAP1.org/PR48 Collective page - cureSYNGAP1.org/Collective More fundraisers! WARD - Shoot for SYNGAP on November 14th in Utah! https://fb.watch/HRnwf9FnEB/ Another in Boston in the works… WEBINAR: Understanding ASOs & Informed Consent June 30 4:30 ET https://curesyngap1.org/calendar/understanding-asos-informed-consent/ 5TH SCRAMBLE FOR SYNGAP, SC – 106 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 CURE SYNGAP1 CONFERENCE - 166 days until December 3rd cureSYNGAP1.org/Denver rooms available: ‭ cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 37. +12 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 5,058 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.58k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.13 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 210 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Wednesday, June 10, 2026 - Week 24 #NightOfImpact was 15 Days ago! Photos: https://jeaniehorton.pixieset.com/curesyngap1nightofimpact2026/ Impact: $800k+, of which $300 was our match. Industry: Multiple Academics & Clinicians: Stanford, Berkeley & UCSF. Cross-pollination is always good. Speakers: Ash, John, Kathryn, Helen Willsey & Me. Only got a video of John, which was a mistake. If you took one, please share. Here is John: https://www.linkedin.com/posts/graglia_still-reflecting-on-our-inaugural-cure-syngap1-ugcPost-7467439971294048256-cUf9/ Dr. Willsey Rocks. Willsey Press Release https://www.eurekalert.org/news-releases/1130924 (both were at NoI). A few other points on HRW, as we call her. Simons: https://curesyngap1.org/blog/future-research-for-syngap1-how-helen-willsey-broke-new-ground-frogs-in-hand/ Willsey in Neuron 2021: https://www.cell.com/neuron/pdf/S0896-6273(21)00002-7.pdf (Frogs) Birtele in Nature Neuroscience 2023: https://www.nature.com/articles/s41593-023-01477-3 (Confirms) McCluskey in Nature Communications 2025: https://www.nature.com/articles/s41467-025-57342-3 (GI) Kostyanovskaya in BioRxiv 2025: https://pubmed.ncbi.nlm.nih.gov/39677731 (cilium) 5TH SCRAMBLE FOR SYNGAP, SC – 114 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 CURE SYNGAP1 CONFERENCE - 175 days cureSYNGAP1.org/Pre USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 35. +11 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 5,045 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.58k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.34 today. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 209 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Tuesday, May 19, 2026 - Week 21 Personal Update via Syngap Stories: Page: cureSYNGAP1.org/stories41 Post: https://www.linkedin.com/posts/syngap1stories-syngap1-curesyngap1-share-7462125026276777984-OVBr #ThisIsOursToLose - Three steps to engaging friends with CURE SYNGAP1. Share CURE SYNGAP1 Video - Burden, Hope & Progress - 1.1k views in 11 days. cureSYNGAP1.org/Burden https://www.linkedin.com/posts/syngap1-curesyngap1-raredisease-share-7458298251893448706-jfWF Send IMPACT REPORT - Tool for family, newly diagnosed & Fundraising. cureSYNGAP1.org/Impact or cureSYNGAP1.org/Impact25 Ask to Donate curesyngap1.org/donate/ CAMP4 Joining us at the Night of Impact (with Stoke, Acadia, BioMarin, Gondola & others) and… https://www.biospace.com/press-releases/camp4-therapeutics-to-present-new-preclinical-data-demonstrating-cmp-002-improves-seizure-threshold-and-severity-in-a-model-of-syngap1-related-disorder INAUGURAL SF NIGHT OF IMPACT, CA – 9 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 137 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 CURE SYNGAP1 CONFERENCE - 198 days. cureSYNGAP1.org/Pre26 USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 31. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,964 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.58k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.56 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 208 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, May 8, 2026 - Week 19 CURE SYNGAP1 STRATEGY WORKING Our strategy has always been to derisk SYNGAP1 so that industry will invest and bring their skill and capital to bear. We leverage donor dollars to maximize impact. Yesterday was a great example: EARNINGS REPORTS CAMP4 1Q26 Results: $99M https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-first-quarter-2026-financial-results-and-corporate We submitted our first regulatory filing for CMP-002 in Australia which positions us to initiate a global first-in-human Phase 1/2 clinical trial in the second half of 2026. Stoke 1Q26 Results: $411M https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-first-quarter-2026-financial Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP1 in 2026. SYNGAP1 is a severe and rare genetic neurodevelopmental disease. Praxis 1Q26 Results: $1.4B https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-19 Praxis remains on track to nominate a development candidate for each of its three early stage ASO therapeutic initiatives in the first half of 2026: PRAX-090 is designed to address SYNGAP1 loss-of-function (LoF) mutations, a leading cause of severe intellectual disability and epilepsy in DEEs. #CompetitionIsGoodForThePatient KCNT1 Big Day today - Congratulations Post: https://www.linkedin.com/posts/graglia_kcnt1-share-7458560855744618496-X10d Press Release: https://www.linkedin.com/posts/kcnt1-kcnt1-epilepsy-ugcPost-7458487179149787136-kH7c/ WATCH & SHARE OUR VIDEO Watch and share the new SYNGAP1 Video, it is excellent and helps explain our cause to families and friends. We need to turn them into supporters and donors. cureSYNGAP1.org/SYNGAP1 -> https://youtu.be/pO3ayASBiEk INAUGURAL SF NIGHT OF IMPACT, CA – 20 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 148 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 28. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date https://pubmed.ncbi.nlm.nih.gov/42093631/ ADHD in patients with #DLG2 #NRXN1 #SHANK3 #SYNGAP1 SOCIAL MATTERS 4,940 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,569 YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.46. https://www.google.com/finance/beta/quote/CAMP:NASDAQ $STOK closed at $32.89. https://www.google.com/finance/beta/quote/STOK:NASDAQ $ACAD closed at $22.40. https://www.google.com/finance/beta/quote/ACAD:NASDAQ $PRAX closed at $330.02. https://www.google.com/finance/beta/quote/PRAX:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 207 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Wednesday, May 6, 2026 - Week 19 Congrats to GETA, CURE SYNGAP1 Australia & CAMP4 for a great weekend. https://www.linkedin.com/posts/syngap1-epilepsy-ugcPost-7457791427486466048-j8SB WEBINARS! CURE-ID Webinar tomorrow! Register now. Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID Next week, especially NY families, while you are registering, please make sure to go to this one with Dr. Buxbaum from Mt. Sinai. curesyngap1.org/seaver https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-rarediseaseresearch-activity-7457507565527044096-dDEK Longitudinal Data Matters - Every six months or more! Study list! CURE SYNGAP1 CONNECT http://curesyngap1.org/connect Citizen Health https://www.citizen.health/ai-advocate/syngap1 Combined Brain ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 & Rare-X, the same week. OR DSC. #S10e CURE-ID for Drug responses. Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID 6th ANNUAL SPRINT FOR SYNGAP1, we raised over $300k! (Gross) Thank you Tavillas for raising over $170k this will go to the Missense fund. We spent over $¼M on missense last year. Thank you Emily Barnes for hosting a New England event for families. https://www.linkedin.com/posts/ecarlisle_we-had-an-incredible-sprint-for-syngap-ugcPost-7457845816502845440-nJCd Thank you to Sara and Sarah for the Virginia event. GREAT WORK. https://www.linkedin.com/posts/sarah-sakly-648544337_syngap1-raredisease-curesyngap1-ugcPost-7456869206341464065-VESz Thank your Rifton for the donation of the tricycle. Congratulations Matthew! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-sprint4syngap-activity-7457806850676281344--JR- Thank you to the Edouard Family! cureSYNGAP1.org/Crafts26 https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-craftsforacure-activity-7457211260242411520-ekPz INAUGURAL SF NIGHT OF IMPACT, CA – 22 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 150 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 27. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,931 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.56k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $3.97 Friday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 206 of #Syngap10 #CureSYNGAP1 #Podcast

Monday, April 20, 2026 - Week 17 CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity. PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdf Petition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdf Reuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/ Pink Sheet: https://insights.citeline.com/pink-sheet/pathways-and-standards/review-pathways/could-structured-not-ad-hoc-us-fda-flexibility-increase-rare-disease-development-certainty-BYXJENIJLFEINOSO72RS53ZJHE/ Show your support here: https://www.regulations.gov/document/FDA-2026-P-3666-0001 Paragraph 1 – Share information about you and SYNGAP1. Paragraph 2 – Seizures are hard to count while X, Y and Z are major burdens but FDA wants nice countable seizures, this makes it hard to develop drugs. Paragraph 3 – How could “clinically meaningful” endpoints potentially help your community and drug developers? How could a study design other than a ‘randomized clinical trial’ help? How could FDA consulting with disease-specific experts help? Closing – Finish your letter with anything along these lines: We support the framework for all rare set diseases in Haystack’s petition. We don’t believe FDA has to lower the evidentiary bar to approve treatments for our diseases. Randomization isn’t always possible. New scientific methods should be considered. Endpoints specific to our disease should be considered. We urge FDA to open a rulemaking so we can have a legally binding regulation. Board changes, thank you to everyone. https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-patientadvocacy-activity-7450528611339616256-4MJF?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE Press Release cureSYNGAP1.org/PR45 US, use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 Study list! Citizen Health https://www.citizen.health/ai-advocate/syngap1 Combined Brain (May 1 & 2 in NorCal), https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 Rare-X, the same week. DSC and Cook’s are coming soon! CURE-ID for Drug responses. CURE-ID is cool. https://cure.ncats.io/home (Webinar coming) Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID 6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 5 days - $207k! Go Tavilla. 17 teams raised $265K last year; this year, we have 20+ teams! https://curesyngap1.org/calendar/sprint4syngap-2026 Thank your Rifton for the donation of the tricycle. Email today: https://mailchi.mp/curesyngap1.org/sprint-for-syngap-2026-one-community-one-goal?e=17610baa03 INAUGURAL SF NIGHT OF IMPACT, CA – 38 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 166 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 26. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,891 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.55k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.67 Friday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 205 of #Syngap10 #CureSYNGAP1 #Podcast

Tuesday, April 14, 2026 - Week 16 Census is 1,761 https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761 Trip to Texas for UT Arlington and Cook Children's Systems innovation with Dr. Lal and Dr. Perry My post: https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share *** Dr. Lal’s post: *** https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZ ProMMiS patients - 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visits https://curesyngap1.org/resources/studies/syngap1-prommis Citizen - 289 registered https://www.citizen.health/ai-advocate/syngap1 Victoria Arteaga representing CURE SYNGAP1 at IBE Global Leaders Meeting https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-rareepilepsy-dee-activity-7449587651885621248-UD9v Newsletter 51 www.cureSYNGAP1.org/NL51 SYNGAP1 Snippets You are in this for life. Board meetings to approve budgets, fundraising has never been more important. 6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 12 days - $169k! Go Tavilla. 17 teams raised $265K last year; this year, we have 24 teams who have raised almost $170K so far. https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 46 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 174 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 24. +8 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,869 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.55k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.64 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 204 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, April 3, 2026 - Week 14 Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians. https://dsc.rarediseasesnetwork.org/patient-advocacy-groups More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/ We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations: Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis. University of Alabama at Birmingham led by Dr. Martina Bebin. Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/ ). After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed. ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data… Where does SYNGAP1 Data Live? Citizen.Health Retrospective ProMMiS Clinical Rare-X PRO Now the DSC will have both Combined Brain Registry and EEG Database. In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia. In the EU there is PATRE part of EURAS. In the UK, it seems largely via NHS. In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/ Where else? SYNGAP1 is having a moment, we need project manager volunteers. SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k! Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 55 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 183 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,822 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.55k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.47 today. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast

Thursday, March 26, 2026 - Week 13 Thanks for NL50 Ed! cureSYNGAP1.org/NL50 , I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen. SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS Stay Connected to CURE SYNGAP1. Fill in the Connect Form https://curesyngap1.org/connect Have an annual call with Lauren Subscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube Know your mutation, have your genetic report. Memorize it or get a tattoo. Sign up for our Natural History Studies. Looking forward: ProMMiS https://curesyngap1.org/prommis/ (Also helps you figure out travel) Looking back: Citizen Health https://www.citizen.health/ai-advocate/syngap1 Participate in Research, get your mutation affirmed and published. Join the CB BioRepository https://combinedbrain.org/roadshow Give samples early and often, like me last week: https://www.linkedin.com/posts/graglia_syngap1-syngap-ciliopathy-activity-7441907768468451328-xhzb Do Surveys Educate yourself, start with these two blogs. https://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossary https://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know Extra Credit: Collect your EEGs. Get them from everywhere you have been (check Citizen to be sure) Keep them handy on a google drive… like this: https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=share_link Upload them to the CB EEG Repository. Email Lauren for info #S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123 Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help. #S10e SPRINT FOR SYNGAP1, EVERYWHERE – 29 days Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 63 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 191 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SYNGAP1 Awareness Must watch this episode of Kelly and Kyle. Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bones PUBMED Pubmed 2026 is at 18. Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,786 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,540 YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, March 6, 2026 - Week 10 WHAT DO WE NEED $ FOR? I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund. SPRINT FOR SYNGAP1 Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money. Get on the map! Text sprint26 to 71777 https://curesyngap1.org/calendar/sprint4syngap-2026/ INAUGURAL SF NIGHT OF IMPACT Also to raise funds, please join us in SF on May 28th. 83 DAYS. Thanks to the organizational team Justin, Zoe, Ed, Jessica, etc. cureSYNGAP1.org/SF26 NHS Matter I talked in episode 198 #S10e198 about the importance of natural history studies. Check out this paper on Zuvenersen from Dravet to understand the long-term impact these studies could have. https://www.nejm.org/doi/full/10.1056/NEJMoa2506295 Join ProMMiS and Citizen Health. SHOUTOUTS Rosie Davilla on Univision curesyngap1.org/rosie2026 - https://www.univision.com/local/dallas-kuvn/syngap1-el-diagnostico-que-cambio-la-vida-de-rosie-en-texas-video #RareDiseaseDay Talks Emily Barnes @ Quiver; Paulina and Brian Sheehan @ Third Rock; Mike @ SparkNS; John Hill & Allison CNBC Cures. Beata’s double header SYNGAP1 Stories. Part 1. https://curesyngap1.org/podcasts/syngap1-stories/beata-tarasiuk/ DSCIII In addition to Colorado Children’s & Stanford we are now in a study at Boston Children’s, Rush and U Alabama aka UAB. Attending kick off for this at the end of the month. DATES TO TRACK Scramble for Syngap - 5th annual on October 3 in S. Carolina in 211 DAYS cureSYNGAP1.org/Scramble26 Conference in Denver CO! 271 DAYS. Sponsorship options in our #Prospectus for industry are available here https://curesyngap1.org/prospectus Science Day - cureSYNGAP1.org/SD2025Videos Family Day - cureSYNGAP1.org/FD2025Videos See our entire library of webinars & videos on YouTube youtube.com/cureSYNGAP1 BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org PUBMED Pubmed 2026 is at 12, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Two particularly cool papers: HDAC Inhibitors https://pubmed.ncbi.nlm.nih.gov/41777621/ A positive missense causing cognitive resilience https://pubmed.ncbi.nlm.nih.gov/41777621/ SOCIAL MATTERS 4,732 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,535 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.59 on 5 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 201 of #Syngap10 #CureSYNGAP1 #Podcast

Wednesday, February 25, 2026 - Week 9 Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ NATURAL HISTORY STUDY Sign up for Citizen Health cureSYNGAP1.org/Citize n and ProMMiS cureSYNGAP1.org/ProMMiS And now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dva Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant projects. Fundraising Regulatory - Industry Regulatory - FDA Clinical Trial Readiness Standard of Care Patient Engagement Health Economics https://www.linkedin.com/posts/graglia_the-economic-impact-of-caregiving-for-individuals-activity-7431827551574011904-HvA4 Global Coordination Next steps with NALL Patient Support Next steps with Nortriptyline BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org FUNDRAISING - SPRINT4SYNGAP Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links: Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26 Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18) SOCIAL MATTERS 4,700 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,530 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast