Andreas Brunklaus

We recently attended the AES meeting tohear the latest in #DravetSyndrome - including news from @StokeTx about the early phase results for zorevunersen- the potentially first disease-modifying therapy for Dravet. It’s still early days, but we look forward to the progress.🔬

Presenting our re-analysis work on behalf of the Gene-STEPS team at #AES 2024 😎 in LA

🌟🌟🌟article in press🌟🌟🌟 @ErinFreemanJon2 reports from a cross-sectional study of UK parents of children with Dravet syndrome focusing on caregiver burden & therapeutic needs @EPNSnews @DravetUK @a_brunklaus @sameermzuberi @Joesymo @curedravet ejpn-journal.com/article/S1090-…

The SCN1A Horizons UK-wide study team came together on Friday for our first Steering Committee meeting. Adult & Paediatric experts, data scientists and @DSUK came together for a great day of learning and planning the future of the study💡 Led by Chief Investigator @a_brunklaus

Following our UK-wide launch in April 2024, we have officially recruited 50 participants to the SCN1A Horizons study! Looking forward to welcoming many more families and study sites in coming weeks and months!

@ElonMNews A

Today we celebrate International Glut1 Awareness Day with our community, raising awareness of Glut1 and learning more together. The hopes and dreams of our community drives us to continue our mission youtu.be/5ucPwVv9SGE?fe… #togetherforglut1

Thanks to all our collaborators - @a_brunklaus @cmbosselmann @DLSneurocyclist @nupharm1 @LalDennis and many not found on Twitter - for their contributions!! x.com/biorxiv_geneti…

New lab's paper. NaV1.1/Scn1a phenotype: homozygous patient's gain-of-function variant causes life-threatening apneas and brainstem depolarization; responds to sodium channel blockers. pnas.org/doi/10.1073/pn…. With S.Cestele, E.Tolner, @a_brunklaus , A.van den Maagdenberg, et al.

The @SCN1AHorizons neuropsychology team met for an inspiring away day in Manchester. Very moving & informative talks from Galia and Claire @DravetUK and the entire team! So much to learn on #SCN1A related #Epilepsy #Genetics . Many thanks to the Manchester team for hosting us!

Some of the Horizons team were delighted to take the opportunity to meet in Manchester yesterday. A day of sharing ideas & insightful presentations as we soon progress to expand recruitment across the UK 🧠💡🤝

Publication alert! Genotype-phenotype associations in 1018 individuals with #SCN1A related epilepsies - role of functional regions, in silico prediction and GEFS+ truncating variants. Huge thank you to all international collaborators!! #Epilepsy #Genetics onlinelibrary.wiley.com/doi/10.1111/ep…

Publication alert! Long-term predictors of developmental outcome and disease burden in SCN1A-positive DS. Feng et al. Brain Commun. 2024 pubmed.ncbi.nlm.nih.gov/38229878/

Publication alert! Feng et al. Brain Commun. We show that poorer baseline language ability, more severe epilepsy severity and worse SCN1A genetic score predict worse outcome in DS at 10-year F/U. Identified biomarkers emphasise importance of early focused therapies in DS.

The Task Force on Clinical Genetic Testing in the Epilepsies of the #ILAE Genetics Commission seeks to establish the state of genetic testing worldwide. Please complete the survey (available in 5 languages) even if you do not have access to genetic testing ilae.org/genetic-testin…

@hcmefford @IlaeWeb ILAE survey on genetic testing in the epilepsies - please fill out the @IlaeWeb survey on genetic testing for epilepsy. Looking for worldwide participation. Available in 5 languages. ilae.org/news-and-media…

Trying again - with the link to the survey! Hey #epilepsy #neurology #genetics #GeneChat colleagues - please fill out this @IlaeWeb survey on genetic testing for epilepsy! Esp looking to increase USA representation. Available in 5 languages. ilae.org/news-and-media…

Widespread genomic influences on phenotype in #Dravet syndrome, a ‘monogenic’ condition ‼️ Additional genomic variation beyond SCN1A contributes to phenotype and its diversity 👇 Excellent work by Sanjay Sisodiya and team 👏 @ingridscheffer @a_brunklaus academic.oup.com/brain/advance-…

Interested in a translational research PhD? Check out the GOSH NIHR BRC call- including finding new epilepsy therapies using organoid modelling with @lab_zhou and me, and understanding the mosaic brain in epilepsy gosh.nhs.uk/our-research/o…

Here's a snippet from Professor @sameermzuberi's interview with @BBCWorld where he discusses the state of #epilepsy treatment around the world, particularly in low-and-middle income countries. Catch-up on the full interview here: vcreate.tv/media/bbc-worl… #PurpleDay #Neurology