Thanks for including me in this work highlighting the benefits of genetic testing in adults! Ilona Krey Johannes Lemke #epilepsygenetics #precisiondiagnosis

A very happy nobel prize laureate! #NobelPrize2022

#notjustepilepsy

Danish Epilepsy Society autumn meeting - tipico is Epilepsy+. Very interesting talk by Soeren Dalsgaard on #ADHD and #autism! (And impressive studies pubmed.ncbi.nlm.nih.gov/36069019/) #DES #epilepsyplus #genetics #polygenicriskscores

Check out this #tweetorial on #ringchromsome20, informative and comprehensive #epilepsygenetics #precisiondiagnosis

Wish I could have been in Nashville to meet everyone! Meanwhile, check out the latest release of the SLC6A1 portal, so much useful information packed into one portal #epilepsygenetics #SLC6A1

We've come a long way, we still have a long way to go: #epilepsygenetics #precisiondiagnosis #precisionmedicine nature.com/articles/s4158…

Available now: GeneReview on (one of) my favorite genes #SLC6A1. Happy to have been able to contribute to this project. Thank you to Kimberly Goodspeed for including me in this work. #epilepsygenetics #precisiondiagnosis ncbi.nlm.nih.gov/books/NBK58917…

It’s rare disease day! youtu.be/DQ_-MqCVvlA

Elsevier is losing editors

Read below on one of the rare NDDS #POU3F3 related disorders. Happy to have contributed to this project. Congrats Alessandra Rossi #epilepsygenetic #precisiondiagnosis

In Christian Bosselmann s words "This has real impact: Patients with episodic ataxia or epilepsy are often prescribed sodium channel blockers 💊, but this led to worse symptoms in four of ther patients - as the channel function is already impaired!" #epilepsygenetics #precisiondiagnosis

Excited to attend Europe’s second #scn8a & ##scn2a conference and family gathering today. The program is full of interesting talks thanks to the organizers SCN2A Europe SCN8A_EU #epilepsy #DEE #epilepsygenetics

#SCN2A - not a homogenous condition! Excellent overview of the phenotypes (from DEE to self-limiting epilepsy and even episodic ataxia) and the natural history (again, it is not one size fits all) as presented by Dr Walid Fazeli and Katherine Howell #epilepsy #epilepsygenetics

#SCN8A - also presents with different phenotypes depending on the functional outcome of the specific variant. The core phenotype is SCN8A DEE, with specific recognizable characteristics. The LOF phenotype may also include DEE. Great talks by Elena Gardella and Roberto Previtali

#timeisbrain - in SCNxA channels the genes are paralogs, enabling us to look at variants across all genes. A variant characterized as LOF in #SCN1A is also LOF in #SCN2A and #SCN8A Very relevant as functional testing is not clinically available. By brilliant Andreas Brunklaus

Treatment in #SCN8A and #SCN2A - Rikke S. Møller pointing us in the right direction, depending on the functional effect of the variant and highlighting upcoming small molecule treatments💪🏻 #epilepsygenetics #precisiondiagnosis

#ASOs in #SCN8A is difficult because #SCN8A is a Goldiloks gene: both too little and too much is disease causing. Excellent talk by mother and scientist Madeleine Oudin 💪🏻 #epilepsy #epilepsygenetics #precisionmedicine

Publication alert 📢 Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a #GABRA1 LOF variant ‼️ From intractable #epilepsy to seizure freedom‼️ #PrecisionMedicine Katrine M Johannesen @Vivian_WY_Li Philip K. Ahring Mary Chebib onlinelibrary.wiley.com/doi/full/10.10…

So amazing to be able to actually provide treatment to this patient and his family! This is when all the work pays off. Read about our n-of-1 trial of Vinpocetine in a patient with a #GABRA1 loss of function variant below ⬇️ #epilepsygenetics #precisiondiagnosis