Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |https://bsky.app/profile/rikkesmoller.bsky.socialhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lta3qd4jas2wExciting Announcement‼️ Thrilled to be working on the program for the 7th Dianalund International Conference on #Epilepsy 🤩 ⭐️ The topic is "Developmental and Epileptic Encephalopathies: From Mechanisms to Action" 🤩 📅 May 6-8, 2026, in Køge, Denmark 🇩🇰 #DICE2026 @torierobinson.bsky.social05 Jul 2025 15:40 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lta3qd4jas2whttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lrtc5dhrm22fPublication alert 📢 The genetic and phenotypic spectrum of #GABRB1-related disorders 🧠 We present a comprehensive analysis of GABRB1 variants, by revealing their functional implications, establishing genotype-phenotype correlations & evaluating treatment response ‼️ https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awaf213/8157348?redirectedFrom=fulltext&login=false17 Jun 2025 20:04 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lrtc5dhrm22fhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lo4alrgsoc2wDreaming of a career in neuroscience 🧠? Neuroscience Academy Denmark @naddenmark.bsky.social offers 16 fully funded PhD fellowships to exceptional and highly motivated candidates‼️ 📅 Application deadline: August 11, 2025 Learn more about NAD at 👉 neuroscienceacademydenmark.dk01 May 2025 11:50 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lo4alrgsoc2whttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lm34zjcomk2dPublication alert 📢 The severity of #SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction 🧬🧠 ⭐️ 3 distinct molecular and clinical phenotypes were observed ‼️ Great multicenter collaborative effort led by scientists in 🇩🇰 & 🇩🇪 https://www.sciencedirect.com/science/article/pii/S235239642500092105 Apr 2025 14:23 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lm34zjcomk2dhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lm2wvrgnn223Heading home after a fantastic Troina meeting on #genetics 🧬 of neurodevelopmental disorders 🇮🇹 Exciting and inspiring talks and discussions, & lovely to see old friends & colleagues from around the world 🤩 #Epilepsy @hcmefford.bsky.social @bertdevries.bsky.social @naelnadifkasri-lab.bsky.social05 Apr 2025 12:33 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lm2wvrgnn223https://bsky.app/profile/rikkesmoller.bsky.social/post/3lkqretyvfc22One of the missions of EpiCARE (the European Reference Network for rare and complex epilepsies) is to promote clinical research on genetic epilepsies 🧠 Check out the webpage for collaborative research calls incl. our recent call on #SCN2A-related episodic ataxia and alternating hemiplegia 👇19 Mar 2025 18:03 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lkqretyvfc22https://bsky.app/profile/rikkesmoller.bsky.social/post/3ljq6i5agkk2nThrilled to share the program for the 3rd #SCN2A and #SCN8A scientific conference and family gathering 🤩 📅 May 16th-17th, 2025 📍 Bonn, Germany ⭐ Registration is free of charge 👉 https://lets-meet.org/reg/b7f4598e20ab473313 Join us in Bonn to learn more about SCN2A and SCN8A related disorders 💜06 Mar 2025 18:59 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3ljq6i5agkk2nhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3ljiriadzec2fToday the amazing @agustinafernandez.bsky.social from Cure GABAA Variants and her lovely family visited the Danish Epilepsy Centre 😍 It was a great pleasure to showcase our beautiful center, to share progress & to discuss future collaborations 😊 Together, we can drive change ‼️ #StrongerTogether 💜03 Mar 2025 20:18 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3ljiriadzec2fhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lgjaqetkn22gGreat pleasure to attend the Synapse Biology in Health and Disease Symposium at University of Copenhagen 🇩🇰 Lots of interesting talks incl. exciting presentations on SNAREopathies/#STXBP1-related disorders 🧠🧬 Grateful for the opportunity to share insights on #GABAA-receptor related disorders 🤩24 Jan 2025 20:35 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lgjaqetkn22ghttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lfsfkn2fpc26New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗ Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️ Angel Aledo-Serrano & David Lewis-Smith 💪👏 #Epilepsy 🧠 #Genetics 🧬 https://www.medrxiv.org/content/10.1101/2025.01.12.24318239v115 Jan 2025 18:31 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lfsfkn2fpc26https://bsky.app/profile/rikkesmoller.bsky.social/post/3lfsesevkfs22Publication alert 📢 Cenobamate as add-on treatment SCN8A-DEE ‼️ ⭐️ Our data suggest that cenobamate is a promising and safe treatment even during early childhood ‼️ Excellent work by Cathrine Gjerulfsen & Madeleine Oudin 💪👏 #Epilepsy 🧠 #Genetics 🧬 https://onlinelibrary.wiley.com/doi/abs/10.1111/epi.1825715 Jan 2025 18:17 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lfsesevkfs22https://bsky.app/profile/rikkesmoller.bsky.social/post/3lffnfvbnus2fWhat an incredible three days‼️ Huge congrats to Eduardo Pérez for organizing such a remarkable event & for the great hospitality 😍🤗 Here’s to future collaborations 🌟 🤩 ¡Nos vemos en el próximo Congreso Latinoamericano de Epilepsias Genéticas (CLEG) ‼️ #Epilepsy 🧠 #Genetics🧬 #Collaboration10 Jan 2025 16:46 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lffnfvbnus2fhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lfawsewrbc2mAttending the 1st Latin American Congress on #Epilepsy #Genetics in Chile 🇨🇱 Huge congrats to Carolina Alvarez and Eduardo Pérez for organizing this foundational and inspiring congress 🤩👏 #StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine08 Jan 2025 19:51 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lfawsewrbc2mhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3ldlf4kwynk2xRima & Rimo in Roma 🤣, attending the "In Search of Lost Time 5" EpiCARE workshop 🧠 The workshop is focusing on the complex intersections of #FCDs and autoimmune diseases with #epilepsy 🧠 Excellent scientific talks, extremely inspiring discussions & always a pleasure seeing friends and colleagues 🤩18 Dec 2024 12:44 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3ldlf4kwynk2xhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3ld7cnbrvcc23A great day for Elena Gardella and the #epilepsy community in Denmark 🇩🇰 and beyond 🌍 Elena gave her inaugural lecture "A deep dive into monogenic 🧬 epilepsies 🧠: from precision diagnosis to personalized treatment 💊" as new #Professor of Translational Epileptology at @sdu.dk and Filadelfia 👏👏13 Dec 2024 17:27 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3ld7cnbrvcc23https://bsky.app/profile/rikkesmoller.bsky.social/post/3lcxkllr3es2qBack in Denmark 🇩🇰 after a fantastic week in US 🇺🇲 Loved spending time with the amazing ePAGs, catching up with old friends, making new, listening to exciting talks & discussing new and ongoing research projects w/ colleagues from around the world 🌍 Thanks to all who made this trip unforgettable 😍10 Dec 2024 15:28 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lcxkllr3es2qhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lcozhh5yz22aI am incredibly grateful, humbled & honored to have recieved this CureGABAA award 💜 It is truly a privilege to be part of this amazing community that is working SO hard to improving the lives of people with GABAA- receptor related disorders 🤩 #StrongerTogether 💜#Epilepsy 🧠 #Genetics 🧬07 Dec 2024 06:00 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lcozhh5yz22ahttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lcoaidxmsk2uPublication alert 📢 Understanding paralogous epilepsy–associated GABAA receptor variants 🤩 Our findings illustrate how gene family information may facilitate variant interpretation👍 Excellent work by Anthony, Ali & Nazanin 👏 #Epilepsy 🧠 #Genetics 🧬 https://www.pnas.org/doi/10.1073/pnas.241301112106 Dec 2024 22:34 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lcoaidxmsk2uhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lcjcnrogtc2dWonderful visit at Stanford University 🤩 Thanks to Cordelia Smidth and Juliet Knowles for showing us the impressive Knowles Lab, and the beautiful campus 🤩 #GABRB3 #Epilepsy 🧠 #Genetics 🧬 #PreclinicalModels 🐭04 Dec 2024 23:29 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lcjcnrogtc2dhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lbiesye24k2mI've updated the starter pack for rare genetic epilepsies 🧠🧬 It is a work in progress and I will continue to update the pack over the coming weeks 🤩 go.bsky.app/NXw4e8C [contains quote post or other embedded content]21 Nov 2024 21:10 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lbiesye24k2mhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lc643ikmpk2uNew #somatic variants and candidate genes in patients with focal #epilepsy and structural brain lesions 🧠🧬 Impressive study by Dennis Lal and colleagues 👏👏 First step towards precision medicine is precision diagnosis ‼️ https://www.nature.com/articles/s41467-024-54911-w.epdf?sharing_token=zlfqAJwimSCNcAtijFxGHtRgN0jAjWel9jnR3ZoTv0NcYpXczTvJFEBjtvnqd3PjL_D4UJr7wJHkd483-x8_IqKdGC3V-r2phrUuoeWdEXx-rrixmpiwWG1u9dbM604LFnrx7EAF8q__6hCHTVS4_L0PvJpFy8_eiaEJ7i5kgo0%3D30 Nov 2024 12:32 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lc643ikmpk2uhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lc5nx4zw5c2tJoin us for the Synapse Biology in Health and Disease Symposium in Copenhagen 🇩🇰 in January 👇 Open to All: Featuring invited talks, poster sessions & short talks selected from submitted abstracts 🧠 #Neuroscience #SynapticFunction @naddenmark.bsky.social @ucph.bsky.social @perrier-lab.bsky.social [contains quote post or other embedded content]30 Nov 2024 08:19 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lc5nx4zw5c2thttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lbyoyxbc3k2zCelebrating 🎉 that @rebekkadahl.bsky.social is starting her PhD entitled: Decoding GABAA Receptor Variants: Disentangling Clinical Phenotypes Though Computational Approaches 🧠🧬 Give her a follow 👍 to learn more about her work on machine-learning based predictors for GABAA receptor variants 😊28 Nov 2024 08:55 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lbyoyxbc3k2zhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lbxi4yxqoc2nGetting ready for an exciting week in US 🤩 ⭐ 1 stop - Stanford University to visit our amazing DARE Fellow Cordelia 💪 ⭐ 2 - The 2nd annual Cure GABAA Conference ⭐ 3 - The annual #SCN8A Clinician, Researcher, and Family Gathering ⭐ 4 - the American #Epilepsy Society meeting See you in LA?27 Nov 2024 21:19 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lbxi4yxqoc2nhttps://bsky.app/profile/rikkesmoller.bsky.social/post/3lboqpiju322n20 years of work depicted in a word cloud 🧠🧬💊😅 What are your research areas of interest? Try to draw your personalized word cloud at scholargoggler.com 😊 #Epilepsy #Genetics #EpilepsyAwareness #RareDisease24 Nov 2024 09:59 +0000at://did:plc:peadphgpgtk5tm7g5oa3mlya/app.bsky.feed.post/3lboqpiju322n