🧬 El gen #SCN1A tiene más de 1.500 mutaciones y no todas afectan igual en el síndrome de #Dravet.

🔎 La correlación genotipo‑fenotipo explica por qué personas con la misma mutación pueden evolucionar distinto.

💜 Comprenderlo nos acerca a tratamientos más personalizados. #Investigación

🎙️ EP11 de #RarasPeroReales: exploramos la variabilidad genética del gen #SCN1A y su impacto en el #SíndromeDeDravet

🧬💜 Retos y avances clínicos contados por expertos.

Ya disponible en Spotify, Apple Music y Amazon Music 🎧

#EnfermedadesRaras

Seizure frequency by individual and semiology. Seizure frequency is represented overall (A) and by semiology (B-D) over the first 18 years of life. Each segment of the y-axis represents one individual, with panel A being grouped by clinical diagnosis: Dravet syndrome (top), genetic epilepsy with febrile seizures plus (GEFS+; middle), and non-Dravet developmental and epileptic encephalopathy (nd-DEE; bottom). The x-axis represents age on a logarithmic scale from 0-18 years. Seizure frequency is indicated by color as outlined in the legend. White space indicates months where seizure frequency is unknown for a given individual.

Preprint alert 🧬

Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years.

Real-world data adds texture and scale to natural history studies — and helps sharpen endpoints for upcoming SCN1A trials.

🔗 www.medrxiv.org/content/10.6...

#Epilepsy #SCN1A #RareDisease

🦋🧬 #DravetGenomeStudy webinar (childrensphila.bsky.social x DSF) — Mon Jan 26 • 7pm ET

Join to learn how you can support #SCN1A research by participating in the DSF-funded Dravet Genome Study. Live Q&A.

✅ Register → 📣 Upcoming Webinars: tr.ee/h2J-oFA2gC

🧬 ¿Sabes qué es un plásmido y por qué es clave en el síndrome de #Dravet?
En la Fundación hemos diseñado uno que expresa el gen SCN1A, implicado en esta encefalopatía epiléptica ⚡
Ya está disponible en acceso abierto para la comunidad científica 👩‍🔬💜
#Genética #SCN1A #CienciaPorDravet

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

Evidence demands action: An invitation to share the burden of proof
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #DEE #dementia #parkinsonism #Dravetsyndrome #neurodegeneration #SCN1A

Redirecting

Amazing work from the lab of Marín highlighting the role of activity-dependent expression of PGC-1α together with ERRγ for maturation of #PV interneurons:
doi.org/10.1016/j.ce...

Interestingly, we predict less ERRγ activity in PV from our #RNA-Seq of #Dravet mouse #SCN1A:
dx.doi.org/10.1101/2023...

These findings highlight a potential GOF effect for certain DS cases, suggesting that SCB-ASMs may be effective for GOF/mixed DS.
doi.org/10.1002/epi4...

#epilepsy #ilae #epilepsiaopen #Dravetsyndrome #epilepticencephalopathy #gainoffunction #SCN1A #sodium channel

Key point: Pathogenic variants in ATP6V0C can lead to a Dravet-like phenotype.
doi.org/10.1111/epi....

#epilepsy #ILAE #ATP6V0C #Dravetsyndrome #geneticepilepsy #parkinsonism #SCN1A #wholeexomesequencing

Key point: In adults with DS, older age and prolonged use of SCBs are independently associated with worse adaptive skills.
onlinelibrary.wiley.com/doi/10.1111/... (Open access)

#epilepsy #ilae #adult #dementia #Dravetsyndrome #parkinsonism #SCN1A #Neurodegeneration #Sodiumchannelblockers

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

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
doi.org/10.1111/epi....

#epilepsy #ILAE #DNAmethylation #Dravetsyndrome #SCN1A

There are some things in #epilepsy that are ever so counterintuitive. Here, blocking GABA rezeptors with gabazine decreases firing rates of pyramidal and inhibitory neurons only in mice with epilepsy due to a loss-of-function in #Scn1a.
Taken from this very nice paper: doi.org/10.1093/brai...

For the first time, we identified a link between homozygous variants in the voltage-gated sodium channel (#NaV1.1) gene #SCN1A and increased #migraine risk. 🤯 Unexpectedly, these homozygous carriers were protected against #epilepsy.

Welcome to Bluesky Peter (@epilepsy-sci.bsky.social). I have added you to the rare #epilepsy starter pack 🤩

#KCNA2 #KCNA1 #SCN1A

A high seizure burden increases brain concentrations of specialized pro-resolving mediators in the Scn1a+/- mouse model of Dravet syndrome Dravet syndrome is a severe, intractable epilepsy in which 80 % of patients have a de novo mutation in the gene SCN1A. We recently reported that a hig…

Collab with Johnathan Arnold’s group at U Sydney - High seizure burden increases brain concentrations of specialized pro-resolving mediators in #Scn1a #Dravet mouse model 🧠🧪🧬

Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8 - Mammalian Genome Dravet syndrome is a developmental and epileptic encephalopathy (DEE) characterized by intractable seizures, comorbidities related to developmental, cognitive, and motor delays, and a high mortality b...

Our article on genetic modifiers of #Dravet syndrome is published open access. We used #Scn1a mice to fine map two loci and nominate 7 strong candidate genes that influence #SUDEP risk 🧬🧠🐁
link.springer.com/10.1007/s003...

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...