The Cute Syndrome Foundation

???VIRTUAL TICKETS NOW AVAILABLE Can’t make it to Los Angeles but still want to participate in this year’s Annual Gathering? No need to miss out: sign up for a virtual ticket today and watch live from home! In-person tickets are also still available. ??Get your tickets today: https://lnkd.in/eVYP3VYS #scn8agathering #scn8astrong #scn8a #scn8agathering24

Each year at the Annual SCN8A Gathering, TCSF presents the CUTIES, our awards for Champions for Understanding, Treating, Investigating, and Empowering those with SCN8A. This year, we are accepting nominations from the SCN8A community for the Clinician Award! We invite you to nominate a neurologist, epileptologist, or other clinician who is making a positive impact on those affected by #SCN8A. ?? Nominate a clinician here: https://lnkd.in/e_W6_BDj

#SCN8A families and professionals are invited to the 10th Annual SCN8A Clinician, Researcher, and Family Gathering in Los Angeles! We can't wait for another incredible event where all members of the SCN8A community can learn, collaborate, and connect as we work together towards a brighter future for those impacted by SCN8A-related disorders. ?? Register now at https://lnkd.in/eVYP3VYS

Joining us for the Annual #SCN8A Gathering in December, or just want to support The Cute Syndrome Foundation? 2024 Los Angeles SCN8A Gathering designs are now available: https://lnkd.in/d5Whvvsb

See the results of the first trial of Relutrigine for SCN2A/8A kids, and if your child qualifies for the next study phase. Learn more: https://lnkd.in/eAGp5JTH #emboldstudy #SCN2A #SCN8A

Day one at the National Organization for Rare Disorders Breakthrough Summit was great! NORD has some exciting initiatives for the rare disease community. It was great catching up with Kacie Craig and Shelley Frappier withThe Cute Syndrome Foundation, and Ilene Penn Miller with Rare Epilepsy Network (REN)! It is an honor to be here representing the International Foundation for CDKL5 Research (IFCR) and REN!

New preprint alert ?? Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy ?? Twelve patients (2-25 years, 8 females) with presumed gain-of-function SCN8A variants were treated with cenobamate for a mean period of 8.6 months (range 3-27 months). Countable motor seizures were reduced in 12/12 (100%) patients. Seven experienced a seizure reduction above 75% of which two patients achieved seizure freedom ?? Our data suggest, that cenobamate is a promising and safe treatment for SCN8A-DEE, even during early infancy ?? As a possible precision approach to treatment, cenobamate effectively reduced seizure burden and ameliorated non-seizure-related symptoms ?? This study came out of our 2nd European scientist/clinician and family SCN8A/2A meeting in K?ge ???? in 2023 ??Great work by Cathrine Gjerulfsen, Madeleine Oudin, Angel Aledo-Serrano, Francesca Furia, Sopio Gverdtsiteli, Elena Gardella, International SCN8A Alliance and many others not on LinkedIn ?? Thanks to all the families who have shared their experiences with us ?? #StrongerTogether ?? #Epilepsy ?? #Genetics ??#PrecisionMedicine ?? The Cute Syndrome Foundation Cinzia Scarcelli Kacie Craig Scn8a Italia Gabrielle Conecker

“Bruno spent the almost seven years of his life bringing joy and happiness to everybody he encountered. Until SUDEP suddenly and unexpectedly tore him from our lives. The grief was unbearable. But over time, the positivity and general happiness that Bruno had always radiated came through again, and now he continues to shine, perhaps even stronger. He is present in so many people's lives. When Bruno fell victim to SUDEP that fateful night in July 2017, a few weeks before his seventh birthday, our family's world was turned upside down. I was and am very thankful for all the support from family and friends, to this day. And I am grateful for the fact that Bruno continues to shine and spread his characteristic happiness through the many memories we have of him, which keep him alive for us. We have a son, our daughter has a brother, the grandparents have a grandson. Present tense forever. I am happy and proud to be your dad. Thank you, my son, I love you.” -Roland Waegner, Bruno’s dad SUDEP Action Day is an opportunity to talk about Sudden Unexpected Death in Epilepsy with your healthcare provider and the epilepsy community. Only by talking about SUDEP, what it is, and how to prevent it, can we help to make a difference and reduce risk. Learn more: https://lnkd.in/eNZpue53 #SUDEPActionDay2024 #SCN8A

October 16 is SUDEP Action Day. It is a crucial time to raise awareness about Sudden Unexpected Death in Epilepsy (SUDEP). This year’s theme, #OurRisksOurRights, focuses on your right to be informed and access life-saving information, empowering individuals and families to have crucial conversations. We’re also standing with bereaved families as they seek answers and support. Together, we’re prioritizing safety and understanding risks. Join us and our partners in continuing this important conversation. Today, we will be sharing two stories from the SCN8A community about the impact of SUDEP. Learn more: https://lnkd.in/eNZpue53 #SUDEPActionDay2024

Today is SUDEP Action Day. Join PAME and our partners in raising awareness of SUDEP. This year's theme is "Our Risk, Our Rights." This theme emphasizes the community’s right to access vital, lifesaving information, empowering individuals and families by encouraging critical conversations about the risks we face and the rights we have to be informed. The theme also gives bereaved families a platform to get their questions answered and the cause of their loved one’s death acknowledged. #OurRiskOurRights, #SUDEP #SUDEPActionDay2024