SCN1A GOF diseases - a wider spectrum & novel phenotypes. Neonatal DEE with MD & arthrogryposis (NDEEMA), early infantile DEE +/- MD. Majority responding to SC blockers. International collaboration with brilliant functional work by Mantegazza Massimo, doi.org/10.1093/brain/…

New paper from UPenn MDPhD students past (Kevin Goff), present (Sophie) and future (Evan Jiang):
cell.com/cell-reports/f…
VIP-INs are dysfunctional in Dravet syndrome (Scn1a+/-) mice in vivo; deletion of Scn1a in VIP-INs dissociates autism-linked behavior from epilepsy

We are excited to share the results from the primary prevention analysis of the #CLEAROutcomes study published in the Journal of the American Medical Association 🫀

Read more here: bit.ly/3r3Em4g

#DrivingWhatsNext JAMA Cardiology JAMA Network Cleveland Clinic JAMA

📢 A novel gene therapy for #Dravet . jci.org/articles/view/…. Using Canine adenovirus-2 (CAV-2) we delivered the full SCN1A coding sequence into the hippocampus and thalamus of juvenile Dravet mice.

Researchers at Tel Aviv University, have developed an innovative gene therapy that may help children suffering from Dravet syndrome (DS) – severe developmental epilepsy that results from a mutation not inherited from the parents but occurs randomly in the fetus, called SCN1A.

Dr Andreas Brunklaus presents the UK #DravetSyndrome & #SCN1A Natural History study which will recruit 300 people with Dravet Syndrome at the Dravet Syndrome UK Parents & Carers Day. Dravet Syndrome Foundation EpiCARE Royal Hospital for Children, Glasgow UCL Great Ormond Street Institute of Child Health Evelina London

Great start to the year: my paper on SCN1A's poison exon in #Dravet is out in PLOS Genetics . Thanks to a fantastic collaboration, Erik Roberson and Greg Barsh! Special thanks to Nick Cochran, PhD and Greg Cooper at HudsonAlpha!

Dravet Syndrome Foundation @UABSOM
journals.plos.org/plosgenetics/a…

病気の原因は、ナトリウムチャネルの遺伝子（SCN1A）異常とされ、患者の約80％に遺伝子異常が見られる。
しかし、それ以外の原因については現在のところ不明である。

In Paris for the FENS meeting #FENS2022 . Our posters are Sunday morning (S01-601) on GOF SCN1A mutations in extremely severe epilepsies and Tuesday afternoon (S06-164) on brain circuits implicated in autistic-like behaviors in haploinsufficient SCN2A mice. See you there!

El síndrome de Dravet se caracteriza por epilepsia congénita provocada por la mutación del gen SCN1A que conlleva una reducción en un canal de sodio en las neuronas.

SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions doi.org/10.1093/hmg/dd…

Glad to see the paper of my last postdoc with Stephanie Schorge out in bioRxiv Neuroscience! UCL Queen Square Institute of Neurology UCL School of Pharmacy #scn1a #scn2a #splicing #epilepsy

Phase 1/2a studies investigating safety and drug exposure of STK-001 - an #ASO for #Dravet syndrome presented by the great Andreas Brunklaus 👏

55 patients are enrolled‼️

The treatment seems to be well tolerated 👍- more data will follow later this year 🧬🧠

#SCN1A #Epilepsy 💜

Clara Zannino (Università degli Studi Magna Graecia di Catanzaro) explores the impact of low levels of heat shock protein beta-1 (HSPB1) on antioxidant response in patients with SCN1A mutations. #SIBBM23 #Epilepsy #FebrileSeizures

On this #RareDiseaseDay2021 I am so proud of all the new highly intelligent specific treatments developed for #cytinosis #SpinalMuscularAtrophy #FabryDisease and #SCN1A while still horrified at the cost, inaccessibility and politics surrounding some of them. #RareIsMany

Gülbahar 🥰 #beachild #freedom #dravet #curedravet #SCN1A #dravet syndrome #EpilepsyAwareness

SCN1A gene mutation rarely leads to focal epilepsy and normal psychomotor development. MRI is normal.
jle.com/10.1684/epd.20…
#EpilepticDisorders #epilepsy #EEG #genetics ILAE Epileptic Disorders Fábio Nascimento

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Day 2 at the EPIPED-EEG course 🧬🧠

Brilliant talk by Prof Ingrid Scheffer on the #SCN1A phenotypic spectrum ‼️

Loss of function variants in SCN1A cause #DravetSyndrome or #GEFS +, whereas gain of function variants cause early infantile #DEE with movement disorders (PMID 35696452)‼️

CONGRATS to our super🌟 PGY3 Dr. Sheng Tang for receiving the prestigious NIH R25 Grant for his research entitled: 'Investigating the pathogenic mechanisms of novel non-coding variants in SCN1A.” We are so proud of all of his hard work and had to celebrate! 🧠🎉

Pleased to share our international collaborative effort on 'SCN1A Prediction Model' using clinical and genetic biomarkers to predict Dravet syndrome versus other GEFS+ phenotypes in over 1000 patients.
n.neurology.org/content/early/…
Thanks to all collaborators! Dennis Lal, Eduardo Pérez Palma

Alternative splicing tunes sodium channels to support channel- and neuron- specific effects biorxiv.org/cgi/content/sh… #biorxiv_neursci

My daughter has Dravet Syndrome. A rare and severe form of epilepsy. She has a mutation in the SCN1A gene. It’s very important to make people aware about it. The more we raise awareness,the more we break stigma about epilepsy! Epilepsy Foundation of Australia Dravet Syndrome UK Dravet Syndrome Foundation asdravet

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