rb.gy/acx6t8 ➡️ De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.🦠We identified 48 variants in the M3 transmembrane helix across #GRIN1 , #GRIN2A , and #GRIN2B in 56 patients. Good Job Johannes Lemke, etc.

✈️ to Lisborn for #EuroNDD24 workshop on rare neurodevelpmental disorders‼️

Flight delayed but hope to make it for my 15 pm platform presentation on natural history of #KBG syndrome 😅 Stay tuned for what happens 🤞
ElkedB ERN-ITHACA Karen Low #NeuroTwitter #genetics

Please consider donating! If not, please share/repost!

The Dup15q Alliance alliance and the Dup15q patients/families/community that it supports are deeply important to me. I have worked on Dup15q syndrome for close to 12 years now, having patched my very first patient neuron in the…

Just submitted my application for Lundbeck Foundation Investigator Network

A 2 year program for postdoc to junior faculty - working in 🇩🇰 - in any field of #neuroscience ‼️

Aim: To promote multidisciplinary #research
and help young researchers realise their scientific potential👇

lundbeckfonden.com/uddelinger-pri…

Thanks all who attended the 3rd Scientific meeting on KBG syndrome.

For those unable to attend, we did record some of the talks (those with permission), and the link can be watched below, using the passcode (also below).

us02web.zoom.us/rec/share/cz1H…

Passcode: P8.b41S#

3rd scientific meeting on #KBG syndrome. Wednesday 13th from 17-20 pm CET‼️

Great opportunity for the latest update on KBG syndrome‼️ Email Gholson Lyon for a link to join the online summit👇

ElkedB Karen Low ERN-ITHACA EURORDIS-Rare Diseases Europe KBG Foundation KBG Syndrome Rare Diseases

Delighted that our results on adult phenotype of #KBG syndrome are presented at the UK-Dutch #CGSCGG2024 meeting. Will hopefully inspire other teams to use our framework...
ElkedB Karen Low KBG Foundation KBG Syndrome

Rare Disease Day I am supporting all families, clinicians and researchers involved in rare disease. GenROC study is open for recruitment for families of children in the UK - please see our webpage for info. And our KBG Study for Adults is ongoing - see infographic.

Today is rare disease day. Help us to raise awareness and support towards a better tomorrow for people with #RareDisorders ‼️

EpiCARE ERN-ITHACA Rare Disease UK Rare Disease Day Rare Diseases Karen Low KBG Foundation RareDiseaseFdn Beacon for Rare Diseases EURORDIS-Rare Diseases Europe Torie Robinson 🇺🇦

Workshop on using AI for researchers in Denmark: Attend a free online workshop on how to improve your research effectiveness with AI👇

events.teams.microsoft.com/event/6cf0de2f…

For #InternationalEpilepsyDay , check out the thoughts of our exciting epilepsy clinicians and researchers from Filadelfia Research, Denmark 🇩🇰👇🏻!
Allan Bayat, postdoc in neuroscience, Matthias De Wachter, & Leonardo Affronte share their thoughts with us! 👏🏻!
〰️ Allan (English) youtube.com/shorts/218FYXQ…
〰️ Allan (Danish)…

Today is epilepsy awareness day. Let's give people with #epilepsy a voice and bridge the gap between patients, doctors and researchers‼️
ILAE EpiCARE Ángel Aledo-Serrano Rikke S. Møller Matthias De Wachter Sopio Gverdtsiteli ernie santoro yesILAE IBE Epilepsy Stéphane Auvin

#TranslationalResearch #NeuroTwitter #Epilepsy #Genetics

linkedin.com/posts/rigshosp…

If you are an adult or caregiver of an adult with KBG syndrome, this study is aimed at you! Share your voice, or the voice of your loved one by enrolling today!
redcap.link/KBG.Study

#KBGsyndrome #KBGfdn #KBGresearch #everylinkmatters

X 40 individuals have taken part in helping us understand adulthood and KBG Syndrome better. We have more spaces for anyone aged 16 or over with KBG Syndrome and have made the questions available in 6 languages!

Just submitted the 1st out 2 papers about the adult phenotype of #KBG syndrome. This one about the physicians perspective. 1 year from idea to submission‼️
Fruitful collaboration w. Karen Low, Elke de Boer, Hannah Grimes & many others. Fingers crossed & wait for the decision

Today, I gave a lecture at BRIDGE - Translational Excellence Programme about how to communicate research‼️

Hopefully I inspired some researchers on why that is important and how to do it strategically‼️

All researchers can be rock stars but just 'KNOW YOUR STORY' and 'MAKE IT RELATABLE