IDefine-The Kleefstra Syndrome Foundation的动态

Today is World Brain Day, a global event dedicated to raising awareness about neurological disorders and promoting brain health. This day underscores the importance of brain research, education, and advocacy to address the growing global burden of neurological diseases. In recognition of World Brain Day, we are raising awareness about Epileptic Encephalopathy, a severe group of epilepsy disorders characterized by frequent, hard-to-control seizures, and associated with developmental delays and cognitive impairments. These conditions often begin in infancy or early childhood, significantly impacting the lives of affected individuals and their families. Addressing Epileptic Encephalopathy requires increasing awareness about its genetic foundations. Global research has identified many critical genes involved in these disorders, including SCN1A, KCNQ2, PCDH19, ARV1, etc. Awareness of these genetic factors is crucial for early diagnosis, targeted therapies, support, and resources. Genomenon has identified definitive associations between Epileptic Encephalopathy and the genes KCNQ2, PCDH19, and ARV1, along with a strong link to the SCN1A gene. These gene-disease associations were established after an exhaustive analysis of around 16,000 articles. By spreading knowledge about the genetic aspects of Epileptic Encephalopathy, we can foster a community that is better informed and more compassionate, ultimately leading to improved outcomes for those affected by these severe disorders. Explore Genomenon's Mastermind? Genomic Intelligence Platform to learn more about causative genes: https://lnkd.in/gvuFMC5P Learn more about epileptic encephalopathy: https://www.epilepsy.com/ #EpilepticEncephalopathy #RareDisease #RaisingAwareness #Genomenon #MastermindGIP #ClinicalResearch #Genomics

Here is my new article in Practical Neurology summarizing the most recent updates on developing interictal biomarkers for tailoring epilepsy surgery treatment for children with drug resistant epilepsy. Cook Children's Health Care System The University of Texas at Arlington #epilepsy #epilepsyawarness #biomarkers #brainsurgery

This is an exciting and promising development in the field of epilepsy research.

I am hopeful giving the launch of the new phase of FutureNeuro that there will be an opportunity for crucial research into FND (Functional Neurological Disorder) in Ireland. We have had very limited research into FND in Ireland to date and this has to change! #FND #FunctionalNeurologicalDisorder

"The Finnish epilepsy care pathway has been published in?Epilepsia Open.?This Finnish model for epilepsy care provides a streamlined, multidisciplinary approach to the diagnosis and treatment of epilepsy, and combines modern digital tools, data sharing and peer support. The Finnish epilepsy care?pathway can serve to model how integrated healthcare systems can effectively manage complex conditions. The Finnish epilepsy care pathway focuses on timely referrals, continuity of care and enhanced communication between healthcare providers at different levels of care. Patient involvement is assured with an individualised digital application offering secure online messaging, a seizure calendar and remote visits. The pathway enhances virtual consultations and includes regular national diagnostic multidisciplinary meetings for severe epilepsies before selected cases are consulted in ERN EpiCARE meetings." (Source: https://lnkd.in/d-3HPWRa) #epilepsy #epilepsycarepathway #brainhealth #codedtoconnect Reetta Kalviainen Neurocenter Finland Pohjois-Savon hyvinvointialue

Let’s break it down ?? ! Now, you know when people say that a talk/vid/whatever, is about a certain type of epilepsy? Well, that doesn’t mean that it isn’t also about YOUR epilepsy/that of the person you love! Because, heaps of what is discovered in research ???????? can contribute to providing answers to potential treatments/solutions for other epilepsies! Today’s Epilepsy Sparks Insights podcast talks about just that! It was focussed on helping people with the #stxbp1 ?? epilepsy but it just so happens that the results and treatment may also be applicable to helping treat people with other epilepsies like #dravet syndrome ??! It’s titled: “Treating Epilepsy By Increasing Neuronal ??Excitement!” Yeah, INCREASING excitement! Scientist Jean-Fran?ois Perrier’s (of the Perrier Lab at K?benhavns Universitet - University of Copenhagen ????) shares with us his wild discovery to hopefully ?? be applied in clinical trials at Filadelfia Epilepsihospital og sociale tilbud ???? and another in Netherlands ????, soon! Check out the chat, here??????! ?? YouTube https://shorturl.at/bdkmE ?? Podcast (available on any platform under "Epilepsy Sparks Insights" - this is the Podbean link though): https://shorturl.at/auIT3 ?? More on Jean-Fran?ois plus Transcription https://shorturl.at/krSW0 #epilepsy #rareepilepsy #STXBP1 #genetics

?? Read the New Blog on Hookey Media: How Organoid Intelligence is Transforming Epilepsy Research ?? We’re diving into the incredible potential of Organoid Intelligence (OI) and how it’s opening new doors in the fight against epilepsy. Learn how this groundbreaking technology is helping researchers understand and treat different types of seizures, bringing us closer to personalized therapies and a brighter future for those affected. Check out our latest blog on Hookey Media to see how OI is changing the game for epilepsy treatment! ?? https://lnkd.in/gmEzCK-u FinalSpark #HookeyMedia #OrganoidIntelligence #EpilepsyResearch #BrainHealth #InnovativeMedicine #EpilepsyAwareness #Neurotechnology #FutureOfHealthcare #FinalSpark

?? #EpilepsyDay: Navigating the Waves of Hope with Poseidon CRO ?? As we commemorate International Epilepsy Day, let's spotlight the tireless efforts of Poseidon Clinical Research Organization. Here's a glimpse into our impactful voyage: 1. Pediatric Breakthroughs: Our ship docks at children's hospitals, where we unravel the molecular tides of young minds. From genetic markers to novel therapies, Poseidon CRO has participated in illuminating paths toward seizure freedom. 2. Adult Expeditions: Beyond childhood, our compass points to adults battling epilepsy. We explore personalized treatments, decode drug interactions, and chart courses for better quality of life, with several RWE studies in our active. 3. Global Currents: Poseidon CRO collaborates across continents. We attend conferences, exchange knowledge, and hoist the flag of epilepsy awareness. Our legacy and network echoes worldwide. 4. Community Anchors: In local communities, we organize support groups, educate schools, and fight stigma. Knowledge becomes a lifeboat, keeping families afloat during epileptic storms, wether in EU , in North Africa or in South Eastern Europe. ?? Navigating Together: Join us! Share your #MyEpilepsyJourney. Let's challenge stereotypes, inspire others, and sail toward brighter horizons. Reach out to us for more information at : [email protected] #EpilepsyAwareness #Neurology #healthcareheroes

New in #eNeuro: Basu et al. developed an epilepsy mouse model & discovered that HPA axis hyperactivity drives neuropsychiatric comorbidities arising with epilepsy & sudden death from epilepsy. Learn more ?? https://bit.ly/45FpRDV

Fascinating journey from molecular and biophysical point of views.