Dr Nathan Absalom

What happens if you have a GABAA receptor variant and clinical phenotype that doesn't quite fit into loss and gain of function? Our latest eBiomedicine paper by the awesome PhD student @NazaninAzarine1 and @FiladelfiaGene1 can tell you why! sciencedirect.com/science/articl…

Publication alert 📢 Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function #GABRB2 variants ‼️ Excellent work by @NazaninAzarine1 @Philip_K_Ahring @AbsalomNathan & many more 👏 #Epilepsy @CureGABAa @GABA_Alliance thelancet.com/journals/ebiom…

@CureGABAa #StrongerTogether 💜#RareDiseaseDay2024 🦓 #GABAAReceptorAwareness 🧠🧬 #Epilepsy @Sebasortizdelar @Leonardoaffdoc @ReidLab_Florey @MaryChebib @Philip_K_Ahring @LabPerrier @Vivian_WY_Liao @AbsalomNathan @AleRossiNeuro @SusanxnLin @anthonykan1016 youtube.com/watch?v=bguUQh…

How to we predict whether GABA receptor variants are pathogenic and loss or gain of function? Follow the allosteric transitions, we argue in our latest letter to Brain. Thanks to our talented postdoc @SereneElkamand, @ChowHanChua and @Philip_K_Ahring, academic.oup.com/brain/advance-…

@FiladelfiaGene1 @CureGABAa @Sebasortizdelar @MaryChebib @Vivian_WY_Liao @Philip_K_Ahring @SusanxnLin @AleRossiNeuro @NazaninAzarine1 @Katrine92658231 Thanks Rikke, hopefully everyone will get something out of it.

@CureGABAa Looking forward to your talk @AbsalomNathan 💪 #EpilepsyAwareness 💜#GABRA1 #GABRA2 #GABRA3 #GABRA5 #GABRB2 #GABRB3 #GABRG2 #GABRD @Sebasortizdelar @MaryChebib @Vivian_WY_Liao @Philip_K_Ahring @SusanxnLin @AleRossiNeuro @NazaninAzarine1 @Katrine92658231

Family Presentation with Dr. Nathan L. Absalom | Cure GABA-A | Educational Session with Q&A Introduction into Patient and Natural History and understanding Gain and Loss of Function Join us for an educational session with Dr. Nathan L. Absalom. CureGABAa.org #GABR

Join us in supporting Beau (3), Keltie (7) and Harper (6) all with #GABRG2 deletion. Ranging from febrile seizures only to mild epilepsy to frequent seizures/types and delays, all within the same family. gabaa.org/donate #epilepsy

A really original genetic study of its kind, presented by @Katrine92658231, shows the broad phenotypic spectrum of GABRA3 related disorders can be explained by sex and function effect of the #GABRA3 variants. @IlaeWeb #ILAE #IEC2023 @FiladelfiaGene1 @Philip_K_Ahring

"Our warrior angel Zayden. He survived 4 and half years battling GABRB2, before he could not fight it anymore. Loved and missed every single day." Visit gabaa.org for more information on GABA-A Receptor Related Disorders. #epilepsy #GABRB2

The role of ion channels in T cell function and disease frontiersin.org/articles/10.33…

Publication alert 📢 Correlations of receptor desensitization of gain-of-function #GABRB3 variants with clinical severity ‼️ 🇦🇺🇩🇰 teamwork💪 #Epilepsy💜 @SusanxnLin @AngeloKeramidas @Philip_K_Ahring @Vivian_WY_Liao @AbsalomNathan 👏@lundbeckfonden 🙏 academic.oup.com/brain/advance-…

Oops, forgot the main person! @SusanxnLin

Kinetics matter! How different kinetic properties can influence the severity of epilepsy in patients with GABA receptor variants. Great PhD work from Susan and collaboration @Vivian_WY_Liao @Philip_K_Ahring @AngeloKeramidas @MaryChebib @FiladelfiaGene1 academic.oup.com/brain/article/…

@Philip_K_Ahring Brilliant work, congrats to all involved!

Publication alert 📢 #GABRA1-related disorders: from genetic to functional pathways. We expand the genetic and phenotypic spectrum and delineate specific sub-phenotypes for LoF and GoF variants. Fantastic 🇩🇰🇦🇺🇮🇹 teamwork ‼️ @Elegardella @Philip_K_Ahring onlinelibrary.wiley.com/doi/abs/10.100…

Glad to see the new publication for #GABRA1, a gene which is part of our GABA-A Alliance community! #epilepsy @GABRA1Village

Research led by the Institute's Dr @Charles_D_Cox published today in @ScienceMagazine identifies a critical molecule which could lead to the development of future drugs for obesity, osteoporosis, and inflammatory diseases: victorchang.edu.au/news/piezo #mechanobiology #ScienceTwitter

Delighted to share this out today in Lancet Neurology! Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study - thelancet.com/journals/laneu…

Automated patch clamp was originally developed for the pharmaceutical industry, but Thompson et al. repurpose it to investigate functional properties of several sodium channel variants associated with neurodevelopmental disorders bit.ly/47xrSCz #SCN2A #epilepsy