🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

We are glad to be in so many of your #TwitterCircles, it's a great sign that we are all working together 💪 Here is our circle, thank you all for your support and collaboration! We are looking forward to this new year, and wish you all the best for 2023 🎉 #Epilepsy #ERNs

Though we seem to be scattered and separated, we are all connected. Thank you EpiCARE community! Rikke S. Møller Allan Bayat, associated professor Ángel Aledo-Serrano Torie Robinson 🇺🇦 Reetta Kälviäinen Gaetan Lesca Sandor Beniczky Stéphane Auvin

SAVE THE DATE! 📆 The 7th Dianalund International Conference on #Epilepsy will take place in Køge, Denmark 🇩🇰 from May 6 to 8, 2026 🥳 We hope to see you there 🤩 #DICE2026 #Genetics #PrecisionMedicine EpiCARE yesILAE International League Against Epilepsy Torie Robinson 🇺🇦 Elena Gardella

On my way to the #ern_epicare annual #generalasdembly in Barcelona. EpiCARE #WP16_Genetics_Research HCL - Hospices Civils de Lyon Rikke S. Møller Renzo Guerrini

Thanks to EpiCARE for a fantastic annual meeting 🤩 Delighted to be member of this amazing #epilepsy network that are aiming to improve diagnosis & care pathways; develop standardized protocols; enhance education; and encourage opportunities for collaborative research 🧠🧬

"Zentrum für Seltene Erkrankungen" des Universitätsklinikum Leipzig zertifiziert Damit zweites Referenzzentrum in #Ostdeutschland, dass die gesetzlichen Vorgaben und die des "Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen" (#NAMSE) erfüllt uniklinikum-leipzig.de/presse/Seiten/…

🚨📢 Habemus program for #ESHG2025 ! Get ready for Milan 24-27 May 2025 🇮🇹 European Society of Human Genetics (ESHG)

GREGoR Consortium guidance for reporting and sharing variants in novel #CandidateGenes bit.ly/3z0ZDjb Jessica Chong

EEC Congress 2024 in Rome: On Monday, September 9th, I will be discussing how RCTS clinical trials in pediatrics have evolved since the 90’s, the recent regulatory advances and how we can foster research in that field. Find me at the Biocodex booth during the morning break.

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/…

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability dlvr.it/TFmJM7

Christel Depienne @CharbonnierCam Gaetan Lesca Jean-Baptiste Rivière, Nathalie Rives, Jean-François Deleuze

1/2 The largest study of its kind in #epilepsy: We characterized ~1400 epileptic human brain tissues for somatic variants & identified novel epilepsy associated genes & show that show that such genes are strong candidates for cancer drug repurposing #precisonmedicine ...

2/2 ..impossible without an amazing multidisciplinary team. Thank you Christian Bosselmann Costin Leu [email protected] Lucas Hoffmann Katja Kobow Stéphanie Baulac Imad Najm Ingmar Blumcke and larger team. Here is the link to the study rdcu.be/d1Ul4

Now available online: The full GIM Open Special Issue "Genetic counseling around the globe", with authors from a wide array of countries presenting perspectives and research on the progress in genetic counseling around the world over the past decade bit.ly/3BTbHVg #GIMO

RBL2 dysfunction disrupts cell-cycle gene expression and has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort of patients with loss-of-function mutations in RBL2, and identify novel variants and clinical features. tinyurl.com/3vrm46fn

Proud to be the first geneticist to have reached the 1000th genome on the AURAGEN laboratory of the french national genomic plan (PFMG 2025) 😊. Mainly for patients with rare epilepies. Please to share with you my price 😄 [HCL]_§Team_§ AURAGEN EpiCARE International League Against Epilepsy #pfmg2025

Honored to speak at the 3rd AI in #Epilepsy & Neurological Disorders Conference. AI is revolutionizing epilepsy genetics care & global education. Tackle the elephant in the room—conduct genetic testing to unlock the full potential of AI-informed precision medicine.

One of my proudest moments: The tele precision counseling clinic is OPEN! 🧬8 states, 127 million people & growing 📈↗️ #SCN1A, #SCN2A, #SCN3A, #SCN8A, #CACNA1A, #DEPDC5, #NPRL2, #NPRL3, #GRIN1, #GRIN2A, #GRIN2B, #GRIN2D, #SLC6A1 & 8p disorders. utphysicians.com/telehealth-pre…

Join EpiCARE’s Free Webinars in 2025! 🌍🧠Check out the full schedule, speakers, and register here: epi-care.eu/webinars/ HaDEA EU One Health