Diagnosis of mosaic r(20) syndrome should be considered in the setting of childhood-onset treatment-resistant #epilepsy particularly in the absence of focal abnormalities on brain MRI, distinctive EEG findings and pathogenic variants on short-read NGS pubmed.ncbi.nlm.nih.gov/40678444/ #r20

Beautiful outlook to start #IEC2025, brief chat talking research, stroll along the waterfront and stimulating AdBoard discussion on Improving standards of care for adults with DEEs. Real people, real conversations 💬 Now to Congress…learning, listening, advocating, networking 🤝

Amazing to meet colleagues from across the pond an beyond! Bravo to the ⁦⁦⁦⁦⁦RareEpilepsyNetwork⁩ (REN) 💪 #IEC2025

There still time... We've decided to extend the deadline for EOI by another 2 weeks, so if you've been meaning to make an application, get your form to us asap. Please share this post with colleagues. ring20researchsupport.co.uk/for-medics-res… #raredisease #epilepsy #researcher #makeadifference

PPIE and why it matters Nothing about us, without us… #epilepsy #research #IEC2025

All smiles today #iec2025 Fab to meet up with Ana Mignorance, with whom I spoke at Wellcome Genome Campus 2019 launching our genomic journey of discovery. Also Rohit Shankar working closely with us at UKRET. And not forgetting UCB Pharma who’ve been so supportive #networking

Sad to be leaving #iec2025 So much learned, new contacts made, connections reinforced and opportunities created. Let the discussions continue…this is just the beginning 🙏an goodbye 👋 #abetterfuturewithepilepsy #Strongertogether

Always good to reflect and plan ahead.tbuckinx and Allison Watson kicked off at Incognito - watch out for awareness info coming soon… Then talking treatment challenges and solutions at the Praxis Bouwmarkt reception Fab venues BTW ❤️ #epilepsy #challenges #solutions #iec2025

Steve Gardiner, we think you’re amazing and everyone at Ring20 wanted to say thank you 🙏 . Some of our families added some special messages of their own. Enjoy…this is for you 😊