Here, have a study from 2006. SCN1A is the mutation that causes my son’s disorder.
“Findings: SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases.”
pubmed.ncbi.nlm.nih.gov/16713920/
“Findings: SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases.”
pubmed.ncbi.nlm.nih.gov/16713920/
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study - PubMed
Cases of alleged vaccine encephalopathy could in fact be a genetically determined epileptic encephalopathy that arose de novo. These findings have important clinical implications for diagnosis and man...
pubmed.ncbi.nlm.nih.gov
April 4, 2025 at 9:16 PM
Here, have a study from 2006. SCN1A is the mutation that causes my son’s disorder.
“Findings: SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases.”
pubmed.ncbi.nlm.nih.gov/16713920/
“Findings: SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases.”
pubmed.ncbi.nlm.nih.gov/16713920/
A new approach overcomes viral packaging limitations for Dravet syndrome therapy, delivering SCN1A piecemeal, to be stitched together in target cells.
By Holly Barker
www.thetransmitter.org/spectrum/spl...
By Holly Barker
www.thetransmitter.org/spectrum/spl...
Split gene therapy delivers promise in mice modeling Dravet syndrome
The new approach overcomes viral packaging limitations by delivering SCN1A piecemeal and stitching it together in target cells.
www.thetransmitter.org
April 10, 2025 at 1:51 PM
A new approach overcomes viral packaging limitations for Dravet syndrome therapy, delivering SCN1A piecemeal, to be stitched together in target cells.
By Holly Barker
www.thetransmitter.org/spectrum/spl...
By Holly Barker
www.thetransmitter.org/spectrum/spl...
severe epilepsy of infancy wherein children have severe seizures whenever they have fevers. The pertussis vaccine is given early in life, and a period when the mutated protein responsible for these seizures (SCN1A) is highly expressed. Kids were having seizures because of the vaccine, but...
November 17, 2024 at 3:40 PM
severe epilepsy of infancy wherein children have severe seizures whenever they have fevers. The pertussis vaccine is given early in life, and a period when the mutated protein responsible for these seizures (SCN1A) is highly expressed. Kids were having seizures because of the vaccine, but...
Today we presented our SCN1A-mCitrine mouse to help to study the bio distribution of #Nav1.1 #NeuroFrance2025. This will help to understand #DravetSyndrome #Montpellier if you are interested to use it just contact us
May 14, 2025 at 4:01 PM
Today we presented our SCN1A-mCitrine mouse to help to study the bio distribution of #Nav1.1 #NeuroFrance2025. This will help to understand #DravetSyndrome #Montpellier if you are interested to use it just contact us
Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome | Science Translational Medicine www.science.org/doi/10.1126/...
Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome
A circuit-selective SCN1A gene replacement AAV approach leverages split inteins to correct epileptic phenotypes in Dravet syndrome mice.
www.science.org
March 20, 2025 at 6:30 PM
Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome | Science Translational Medicine www.science.org/doi/10.1126/...
NP-NPY was able to increase resistance against induced seizures in two models of SCN1A-derived epilepsy.
doi.org/10.1111/epi....
#epilepsy #ilae #epilepsia #Dravetsyndrome #nanoparticle #neuropeptideY #SCN1A
doi.org/10.1111/epi....
#epilepsy #ilae #epilepsia #Dravetsyndrome #nanoparticle #neuropeptideY #SCN1A
October 21, 2025 at 4:31 PM
NP-NPY was able to increase resistance against induced seizures in two models of SCN1A-derived epilepsy.
doi.org/10.1111/epi....
#epilepsy #ilae #epilepsia #Dravetsyndrome #nanoparticle #neuropeptideY #SCN1A
doi.org/10.1111/epi....
#epilepsy #ilae #epilepsia #Dravetsyndrome #nanoparticle #neuropeptideY #SCN1A
Cool new study on combination therapy effectiveness using a hyperthermia-induced model of Dravet syndrome in Scn1a mutant mice.
Well now! Our new preprint is up at bioRxiv! Congrats to Jeffrey Mensah (not here yet) for a cool piece of work evaluating a clinically relevant efficacy and PK study in a mouse model of Dravet Syndrome. #neuroskyence #MedSky #epilepsy 🧠 🧪.
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Utilizing an acute hyperthermia-induced seizure test and pharmacokinetic studies to establish optima...
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
www.biorxiv.org
October 5, 2023 at 2:14 PM
Cool new study on combination therapy effectiveness using a hyperthermia-induced model of Dravet syndrome in Scn1a mutant mice.
We tested this in Dravet syndrome—a severe epilepsy caused by SCN1a haploinsufficiency affecting 1:15,000 people. AAV9 delivery of CIRTS-4GT3 targeting SCN1a to neonatal mice increased NaV1.1 protein ~25% in cortex and hippocampus.
February 16, 2026 at 5:54 PM
We tested this in Dravet syndrome—a severe epilepsy caused by SCN1a haploinsufficiency affecting 1:15,000 people. AAV9 delivery of CIRTS-4GT3 targeting SCN1a to neonatal mice increased NaV1.1 protein ~25% in cortex and hippocampus.
Prime editing corrects a pathogenic human SCN1A mutation in mice, reducing seizure frequencies and improving survival in this GEFS+ model
doi.org/10.1126/scit...
doi.org/10.1126/scit...
May 14, 2026 at 2:43 AM
Prime editing corrects a pathogenic human SCN1A mutation in mice, reducing seizure frequencies and improving survival in this GEFS+ model
doi.org/10.1126/scit...
doi.org/10.1126/scit...
Link to our latest work mapping genetic modifiers of #Dravet syndrome in #Scn1a KO mice. High priority candidates include Nav2, Ptpn5, Ldha, Dbx1, Prmt3, Slc6a5 and Psd3. 🧬🧠 www.biorxiv.org/content/10.1...
April 18, 2024 at 12:00 PM
Link to our latest work mapping genetic modifiers of #Dravet syndrome in #Scn1a KO mice. High priority candidates include Nav2, Ptpn5, Ldha, Dbx1, Prmt3, Slc6a5 and Psd3. 🧬🧠 www.biorxiv.org/content/10.1...
Long-lasting astrocyte remodeling in Dravet Syndrome Scn1a+/- mouse model. https://www.biorxiv.org/content/10.64898/2026.01.06.697745v1
January 6, 2026 at 9:15 PM
Long-lasting astrocyte remodeling in Dravet Syndrome Scn1a+/- mouse model. https://www.biorxiv.org/content/10.64898/2026.01.06.697745v1
Thai food just stopped my focal seizure cluster. I have complex SCN1A/SCN9A channelopathy + unitary PVNH LTMLE.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
Capsaicin inhibits sodium currents and epileptiform activity in prefrontal cortex pyramidal neurons
Capsaicin, a compound found in chili peppers, causes burning sensations by acting on the peripheral sensory system. However, it has also been reported…
www.sciencedirect.com
May 2, 2026 at 1:18 AM
Thai food just stopped my focal seizure cluster. I have complex SCN1A/SCN9A channelopathy + unitary PVNH LTMLE.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
Key point: MRI findings include cortical/parenchymal atrophy, hippocampal sclerosis, and malformations of cortical development, with occasional findings like callosal dysgenesis and acute postcritical diffusion changes.
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #Ilae #MRI #SCN1A
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #Ilae #MRI #SCN1A
March 12, 2025 at 2:31 PM
Key point: MRI findings include cortical/parenchymal atrophy, hippocampal sclerosis, and malformations of cortical development, with occasional findings like callosal dysgenesis and acute postcritical diffusion changes.
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #Ilae #MRI #SCN1A
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #Ilae #MRI #SCN1A
Yay, finally well enough to stay vertical for longer than a few mins. Combo of autoinflammatory periodic fever disease (TRAPS) with heat-sensitive epilepsy & paroxysmal extreme pain and dystutonomia (SCN1A/SCN9A) means these flares truly make me wish to die. Pain normies could never comprehend. 😭
February 15, 2026 at 12:26 AM
Yay, finally well enough to stay vertical for longer than a few mins. Combo of autoinflammatory periodic fever disease (TRAPS) with heat-sensitive epilepsy & paroxysmal extreme pain and dystutonomia (SCN1A/SCN9A) means these flares truly make me wish to die. Pain normies could never comprehend. 😭
One day to go for the @ausgenomics.bsky.social AFGN symposium in Melbourne. My students and I took this opportunity to present our patch clamp results for SCN1A and SCN2A to Sam and Michael (Ingrid was away) from Epilepsy Research Centre located at Melbourne Brain Centre, Heidelberg.
#ionchannels
#ionchannels
November 27, 2024 at 6:16 AM
One day to go for the @ausgenomics.bsky.social AFGN symposium in Melbourne. My students and I took this opportunity to present our patch clamp results for SCN1A and SCN2A to Sam and Michael (Ingrid was away) from Epilepsy Research Centre located at Melbourne Brain Centre, Heidelberg.
#ionchannels
#ionchannels
Dravet Syndrome is a genetic form of epilepsy caused by mutations in SCN1A. Researchers screened a library of compounds on loss-of-function scn1Lab (Nav1.1) #zebrafish and found clemizole (EPX-100) rescued the phenotype. This drug is now in Phase 3 Clinical Trials to treat seizures. #KnowYourZDM 🧪
December 14, 2025 at 12:55 PM
Dravet Syndrome is a genetic form of epilepsy caused by mutations in SCN1A. Researchers screened a library of compounds on loss-of-function scn1Lab (Nav1.1) #zebrafish and found clemizole (EPX-100) rescued the phenotype. This drug is now in Phase 3 Clinical Trials to treat seizures. #KnowYourZDM 🧪
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
doi.org/10.1111/epi....
#epilepsy #ILAE #DNAmethylation #Dravetsyndrome #SCN1A
doi.org/10.1111/epi....
#epilepsy #ILAE #DNAmethylation #Dravetsyndrome #SCN1A
February 17, 2025 at 3:54 PM
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
doi.org/10.1111/epi....
#epilepsy #ILAE #DNAmethylation #Dravetsyndrome #SCN1A
doi.org/10.1111/epi....
#epilepsy #ILAE #DNAmethylation #Dravetsyndrome #SCN1A
David Liu (BROAD) publica en Science Translational Medicine una nueva estrategia de terapia génica basada en editores de bases (#CRISPR de segunda generación) sobre un modelo de ratón del síndrome de #Dravet con una mutación en el gen #Scn1a
drive.google.com/file/d/12rcx...
drive.google.com/file/d/12rcx...
In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model.pdf
drive.google.com
May 14, 2026 at 5:04 AM
David Liu (BROAD) publica en Science Translational Medicine una nueva estrategia de terapia génica basada en editores de bases (#CRISPR de segunda generación) sobre un modelo de ratón del síndrome de #Dravet con una mutación en el gen #Scn1a
drive.google.com/file/d/12rcx...
drive.google.com/file/d/12rcx...
This is huge for families with a kid who has a SCN1a mutation - www.bbc.com/news/article...
Drug breakthrough for children with rare form of extreme epilepsy
Families say the groundbreaking medicine is transforming the lives of children with Dravet syndrome.
www.bbc.com
March 13, 2026 at 2:23 AM
This is huge for families with a kid who has a SCN1a mutation - www.bbc.com/news/article...
The results were striking: Female SCN1a+/− mice showed 50% mortality by P50. With CIRTS-4GT3 treatment? Only 13% mortality. We also saw significantly higher seizure thresholds in treated mice—key functional improvements.
February 16, 2026 at 5:54 PM
The results were striking: Female SCN1a+/− mice showed 50% mortality by P50. With CIRTS-4GT3 treatment? Only 13% mortality. We also saw significantly higher seizure thresholds in treated mice—key functional improvements.
Zorevunersen was tested in patients aged 2-18 with Dravet syndrome, focusing on NaV1.1 channel up-regulation to tackle SCN1A haploinsufficiency. PMID:41780062, N Engl J Med 2026, @NEJM https://doi.org/10.1056/NEJMoa2506295 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://doi.org/10.1056/NEJMoa2506295
No description available
doi.org
May 10, 2026 at 5:00 PM
I’ve started a blog - how we’re managing my son’s epilepsy, experimenting with wearable medical devices, and keeping him on a therapeutic keto diet. <a href="http://www.theratioedtoddler.com" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">http://www.theratioedtoddler.com #dravet #keto #EpilepsyDay #EpilepsyAwareness
The Ratioed Toddler
How we keep a toddler with SCN1A epilepsy on a strict ketogenic diet
www.theratioedtoddler.com
November 8, 2024 at 10:50 AM
I’ve started a blog - how we’re managing my son’s epilepsy, experimenting with wearable medical devices, and keeping him on a therapeutic keto diet. <a href="http://www.theratioedtoddler.com" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">http://www.theratioedtoddler.com #dravet #keto #EpilepsyDay #EpilepsyAwareness
Gao lab created an ML-guided workflow to deimmunize human protein domains for safer #GeneTherapy. They built zinc fingers and drug-controllable transcription factors to target genes like UTRN and SCN1A. www.sciencedirect.com/science/arti... @synbiogaolab.bsky.social #AIandCancer
August 8, 2025 at 4:05 PM
Gao lab created an ML-guided workflow to deimmunize human protein domains for safer #GeneTherapy. They built zinc fingers and drug-controllable transcription factors to target genes like UTRN and SCN1A. www.sciencedirect.com/science/arti... @synbiogaolab.bsky.social #AIandCancer
Beyond SCN1a: CIRTS-4GT3 also increased protein expression from CHD2 (epilepsy/developmental delay) and ARID1B (intellectual disability/autism) by 50-100%. The platform is programmable—just change the guide RNA to target new transcripts.
February 16, 2026 at 5:54 PM
Beyond SCN1a: CIRTS-4GT3 also increased protein expression from CHD2 (epilepsy/developmental delay) and ARID1B (intellectual disability/autism) by 50-100%. The platform is programmable—just change the guide RNA to target new transcripts.