Our Angelman Syndrome Registry is now online in German and English! 🚀 Other languages will follow. uniklinikum-leipzig.de/einrichtungen/… Together with the German AS community, we hope for recruiting AngelmanSyndromeFdn patients also from @ANGELMAN_VEREIN angelmanuk Angelman Syndroom and other countries.

Excited to share our study in Genetics in Medicine on genetic testing in adults with intellectual disability & #epilepsy revealing relevant medical undersupply of undiagnosed elderly patients. nature.com/articles/s4143… Huge congrats to Pia Zacher Pia Zacher!👏

The GRIN Portal provides all sort of information on GRIN-related disorders aiming at families as well as researchers and physicians. Let us know if you have feedback!

Let's hope this figure animates other big labs to share even more - I'm looking forward to an update of these numbers in one year. 📈

Please retweet📨We are recruting patients with rare variants in #GRIA genes and offer functional testing of missense variants. Our latest paper on #GRIA3 was just published #Neurogenetics. Great work by Berardo Rinaldo, Yun Stone Shi and others. pubmed.ncbi.nlm.nih.gov/34731330/

📢 Publication alert 📢 L-Serine treatment is associated with improvements in behavior, EEG, and #seizure frequency in individuals with #GRIN-related disorders due to null variants. Ilona Krey Johannes Lemke Katrine M Johannesen #PrecisionMedicine #epilepsy link.springer.com/article/10.100…

Adults and elderly indivduals with developmental and epileptic encephalopathy are far too undersupplied from a genetic testing perspective. We can learn a lot out of their diagnostic odyssey - shown in the latest work of Ilona Krey and Katrine M Johannesen in doi.org/10.1515/medgen…

Speechless! HAPPY! Pinching ourselves! #NobelPrize2022 in Physiology or Medicine😁🥳😃🙃🤗😊🤗🙃🥳😃😁😀 🥳😃😁😀🙃🤗😊😆🤣😆Svante Pääbo MPI-EVA Leipzig 😆😊🤗Max Planck Society 🙃😀😁😃🥳😃😀🙃🤗😊🤣😆🤣😊😊🤗🤗🙃🥳😀😆🤗😊🙃🥳😃😀😆😊🤗🙃🙂😄😲😀😁😃🥳🙃🤗😊🤗🙃🥳😃😁😀😲🥳😊 🥳

Big news in our lab🧪We have just received our new DAkkS accreditation certificate📜more about this in the next weeks. Thanks to our colleagues for making all of this possible! #HappyFriday

☝️ Johannes Lemke Rami Abou Jamra Konrad Platzer Robin Jauss Maike Karnstedt Franziska Reschke Sonja Neuser Julia Herrmann Ilona Krey Stephan Drukewitz Isabell Schumann Denny Popp Tobias Bartolomaeus Mareike Mertens Diana Le Duc @berntpopp @kl_chiara Meret Wegler Meret Wegler Johannes Luppe Joachim Bachmann dj_kumba

Have a look at our 2022 achievements on #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIA1 #GRIA2 #GRIA3 #GRIA4: uniklinikum-leipzig.de/einrichtungen/… Thanks to the research groups of Tim Benke, Steve Traynelis and Dennis Lal Join our registry grin-portal.broadinstitute.org CureGRIN GRIN2Bsyndrome

We investigate potentially recognisable features of #GRIDisorder with a facial recognition tool. #GRIN1 #GRIN2A #GRIN2B #GRIN2D #GRIA1 #GRIA2 #GRIA3 #GRIA4 You can support our research with a photograph.  This is how: uniklinikum-leipzig.de/einrichtungen/… CureGRIN GRIN2Bsyndrome Thanks you!

First report of #KCNA3 DEE. Contrasting #KCNA2, LoF causes milder phenotypes, e.g. solely hemiplegic migraine. Severe cases (GoF) have #Epilepsy, National Autistic Society, #developmentaldelay. Potential #PrecisionMedicine treatment for GoF with #fluoxetine KCNA2 Epilepsy doi.org/10.1002/ana.26…

Michael (name giver of Michael Foundation and #epilepsy Michael Prize) probably had #williamssyndrome. link.springer.com/article/10.100… This post-mortem diagnosis is based on dysmorphologic and clinical analysis & AI (GestaltMatcher (.eth)). Thanks to Peter Krawitz and Christian Brandt. Williams Syndrome Association