Andreas Brunklaus Profile
Andreas Brunklaus

@a_brunklaus

Followers
337
Following
49
Media
7
Statuses
27

Paediatric Neurologist and Clinician Scientist, Royal Hospital for Children / University of Glasgow

Joined April 2021
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@DravetUK
Dravet Syndrome UK
10 months
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.🔬
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@a_mctague
amy mctague
10 months
Presenting our re-analysis work on behalf of the Gene-STEPS team at #AES 2024 😎 in LA
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@EURJPN
European Journal of Paediatric Neurology
1 year
🌟🌟🌟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 https://t.co/GhmBodniaU
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@SCN1AHorizons
SCN1A Horizons
11 months
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
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@SCN1AHorizons
SCN1A Horizons
1 year
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!
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@Glut1UK
Glut1 Deficiency UK
1 year
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 https://t.co/0oQkgrCzhF #togetherforglut1
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@shridparth
Shridhar Parthasarathy
1 year
Thanks to all our collaborators - @a_brunklaus @cmbosselmann @DLSneurocyclist @nupharm1 @LalDennis and many not found on Twitter - for their contributions!! https://t.co/SjJPDvBjll
@biorxiv_genetic
bioRxiv Genetics
1 year
Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants https://t.co/mC8wkvuMv6 #biorxiv_genetic
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@MantegazzaMassi
Massimo Mantegazza
2 years
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. https://t.co/XPUMui6Oje. With S.Cestele, E.Tolner, @a_brunklaus , A.van den Maagdenberg, et al.
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@a_brunklaus
Andreas Brunklaus
2 years
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!
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@SCN1AHorizons
SCN1A Horizons
2 years
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 🧠💡🤝
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@a_brunklaus
Andreas Brunklaus
2 years
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 https://t.co/DyMjpdXqwN
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@a_brunklaus
Andreas Brunklaus
2 years
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.
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@IlaeWeb
International League Against Epilepsy
2 years
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 https://t.co/i50AzB5qDK
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@hcmefford
Dr. Heather Mefford @hcmefford.bsky.social
2 years
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. https://t.co/EykGJ3ire0
@hcmefford
Dr. Heather Mefford @hcmefford.bsky.social
2 years
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. @IngoHelbig @BCH_PoduriLab @ghaydamirzaa @ebonkowski Please RT!
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@FiladelfiaGene1
Rikke S. Møller
3 years
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 https://t.co/Gi0pfG9pKM
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academic.oup.com
Dravet syndrome is typically considered monogenic, but shows marked phenotypic heterogeneity that is incompletely explained by differences in the causal SC
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@a_mctague
amy mctague
3 years
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
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gosh.nhs.uk
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@vCreateHealth
vCreate Health 💙
3 years
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: https://t.co/EbBTCIah5l #PurpleDay #Neurology
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@a_brunklaus
Andreas Brunklaus
3 years
Looking forward to present at the #DravetSyndrome meeting in Madrid 23 March #DSC2023. Sharing our recent advances in early diagnosis and impact on comorbidities.
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@a_brunklaus
Andreas Brunklaus
3 years
10-year prospective #DravetSyndrome study showing decline in QOL of younger patients. Sodium channel blockers worsen QOL highlighting importance of early diagnosis. @EpilepsiaJourn #OpenAcess Thank You DSFamilies! @DravetUK & Glasgow Team! @sameermzuberi https://t.co/2a8Q7MQJaJ
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pubmed.ncbi.nlm.nih.gov
This 10-year, prospective follow-up study highlights the significant HRQOL-associated cognitive, social, and physical decline particularly affecting younger patients with DS. Sodium channel blocker...
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