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🧬El próximo 10 de enero de 2025, Isabel expondrá en el Congreso Latinoamericano de Epilepsia Genética, donde presentará “El viaje hacia un posible tratamiento modificador del síndrome de Dravet”, compartiendo su visión sobre los avances y retos en el desarrollo de terapias.

¡No te pierdas el primer día del Congreso Latinoamericano de Epilepsia Genética! 🔹 Taller I: Introducción a la Epilepsia.Descubre los fundamentos de la epilepsia, sus tipos, cómo se diagnostica y tratamiento #EpilepsiaGenética #Epilepsia #CongresoLatinoamericano

👩‍🔬Es un honor presentar a la Dra. Rikke S. Møller, destacada Investigadora y Directora del Departamento de Genética de la Epilepsia y Medicina Personalizada en el Centro Danés de Epilepsia, ubicado en Dianalund, Dinamarca. #EpilepsiaGenética #StokeTherapeutics

Siii! nos vemos pronto. Inscripciones presenciales y virtuales abiertas en cleg.cl

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 ...

ATENCIÓN ⚡ Hemos extendido la inscripción temprana y la subida de trabajos hasta el 15 de Diciembre :) Aprovechen las tarifas preferenciales! Ya queda muy poco, Nos vemos pronto!

Not an award that I need, however, one that I am proud of. True hero’s are the large team pushing things forward day to day. Thank you the team around Eduardo Pérez Palma , Arthur Stefanski , Katrine M Johannesen , [email protected] Rikke S. Møller and SLC6A1 Connect #AES2024 #SLC6A1

⚡ Ya queda muy poco! acompañanos 😃 Últimos días para inscribirte! aprovecha las tarifas de inscripción temprana. Últimos días para subir tu resúmen y poder mostrar tu trabajo en CLEG! Fecha límite: 15 de Diciembre

Happy to share our latest article published in Brain academic.oup.com/brain/advance-…. Honored to have led this study with Alejandro Cisterna Alejandro Cisterna García, with great support from Steven Lubbe Steven Lubbe and Juan Botia Juan A. Botía. Northwestern Feinberg School of Medicine NM Neurology NM Parkinson's Disease & Movement Disorders

Please retweet 📢: Are you skilled in coding & eager to make a meaningful impact in clinical research? Join our large, friendly, & diverse team! I’m seeking motivated postdocs with strong coding expertise in R and/or Python. Details attached! UTHealth Houston

Attending the 1st Latin American Congress on #Epilepsy #Genetics in Chile 🇨🇱 Huge congrats to Carolina Alvarez and Eduardo Pérez Palma for organizing this foundational and inspiring congress 🤩👏 #StrongerTogether #CollaborationIsKey #RareDisease #PrecisionMedicine

Enhorabuena Eduardo Pérez Palma y Carolina Álvarez por la organización en Santiago de Chile🇨🇱 de esta genial 1ª edición del Congreso Latinoamericano de Epilepsias Genéticas🧬 La comunidad colaborativa de #genética de #epilepsia sigue creciendo🤗

So happy to be presenting at the 1er Congreso Latinoamericano de epilepsias Genéricas in Santiago de Chile 🇨🇱 and share the stage with former colleagues and friends Dennis Lal Eduardo Pérez Palma Cleveland Clinic Lerner Research Institute LARGE-PD @universidaddesarrollo

Rikke S. Møller Eduardo Pérez Palma Ángel Aledo-Serrano Allan Bayat, associated professor Sebastian Ortiz, MD Dennis Lal SLC6A1 Connect Cure GABA A Seeing some of my fav people there- full on #fomo going on here from cold, rainy Houston

Strong start for Latin American #Epilepsy and #NeurodevelopmentalDisorder Genetics: > 230 in person attendees and 150 online. While the congress proceeds am leaving home with great memories & new collaborations. Congratulations Eduardo Pérez Palma for hosting

New pre-print form our team. Eduardo Pérez Palma and [email protected] guesstimated the global marked size of haploinsufficency (genetic loss-of-function) - related #epilepsy. medrxiv.org/content/10.110…

~230 cases of haploinsufficiency-related #epilepsy occur per 100k live births globally. This translates to ~315k new cases/yr worldwide & ~9k/yr in the US. A large pool of pts may benefit from #gene therapies. Fantastic work by Eduardo Pérez Palma, [email protected], Dennis Lal.

In our weekly AI-Podcast series, our digital hosts are discussing this week the recent preprint from Rikke S. Møller, Ángel Aledo-Serrano & team on CDKL5-deficency disorders in adulthood. Check out the content in one out of for languages: youtube.com/@dennislal328/…