Katrine M Johannesen
@katrine92658231
MD and PostDoc. training to be a clinical geneticist. Mother of three humans and most comfortable in rubberboots. Words and opinions are my own.
ID: 1234511247426674695
02-03-2020 16:10:04
234 Tweet
359 Followers
276 Following
Thanks for including me in this work highlighting the benefits of genetic testing in adults! Ilona Krey Johannes Lemke #epilepsygenetics #precisiondiagnosis
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
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
#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…