#SCN1A
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neurotherapytdy.bsky.social
What clinical clues should prompt genetic testing in suspected hemiplegic #migraine? Researchers discuss a family with a history of hemiplegic migraine, the potential role of SCN1A, and implications for diagnosis and multidisciplinary care. #Neurology
www.docwirenews.com/post/qa-scn1...
Q&A: SCN1A Gene and Clinical Presentation in a Family With a History of Hemiplegic Migraine | DocWireNews
This study looks at the clinical presentation of hemiplegic migraine in a family and the role of the SCN1A gene.
www.docwirenews.com
September 18, 2026 at 11:03 AM
medchemexpress.bsky.social
🧠A new JCI review highlights how mutations in CACNA1A, ATP1A2, and #SCN1A can alter neuronal excitability and increase susceptibility to cortical spreading depression (CSD), a key mechanism underlying migraine aura.
https://www.jci.org/articles/view/208001
September 17, 2026 at 10:15 AM
seattlechildrens.org
We're proud to celebrate a promising gene therapy advancement from Seattle Children's researchers that could help transform the future of care for children living with severe epilepsy. One goal: better outcomes for kids.
https://bit.ly/4x2Hf1g

#20YearsStrong #SeattleChildrensResearch
20th anniversary celebration of Seattle Children's Dravet Syndrome Research program. The image has a portrait of Dr. Franck Kalume, PhD. A headline states "Leading the Way in Dravet Syndrome Research," highlighting Dr. Kalume's contributions to understanding and treating the condition at Seattle Children's. The image contains text set against a blue background: "Turning Knowledge Into Discovery. Using insights gained over decades of research, Dr. Kalume and collaborators developed a precision gene therapy approach designed to address the genetic cause of Dravet syndrome. The findings, published in Science Translational Medicine, marked an important milestone for the field. The team’s discoveries revealed how SCN1A mutations disrupt brain function and identified new opportunities for precision therapies targeting the disease's root cause." In a laboratory setting, an individual in a white lab coat is working at a cluttered bench filled with scientific equipment and colorful bottles. A text overlay quotes Franck Kalume, PhD, discussing research on epilepsy, emphasizing its impact on families. Franck Kalume is noted as Principal Investigator at the Norcliffe Foundation Center for Integrative Brain Research. A person wearing a lab coat is seated at a computer in a laboratory. The text below discusses advancements in epilepsy research, highlighting Dr. Kalume's contributions, particularly in understanding Dravet syndrome, and mentions ongoing scientific progress for new treatment possibilities for children with severe epilepsy.
September 14, 2026 at 4:30 PM
research.migraine.kr
A precise clinical history and targeted genetic testing (CACNA1A, ATP1A2, SCN1A, and PRRT2) proved essential for establishing the diagnosis.

CONCLUSION: This case highlights the wide phenotypic variability of FHM and the risk (🧵 3/4)
August 23, 2026 at 9:51 AM
paper.migraine.kr
뇌염 또는 간질 지속증을 시사했다. 정밀한 병력 청취와 표적 유전자 검사(CACNA1A, ATP1A2, SCN1A, PRRT2)는 진단을 확립하는 데 필수적인 것으로 입증되었다.

결론: 본 사례는 FHM의 광범위한 표현형 다양성과 응급 상황에서 발생할 수 있는 오진 위험을 잘 보여준다. 세심한 임상 평가와 적절한 유전자 검사를 통한 조기 발견 덕분에 적절한 치료가 이루어졌으며, 불필요한 중재를 피할 수 있었다. (🧵 2/2)
August 23, 2026 at 9:42 AM
paper.migraine.kr
편마비성 편두통이 예상을 뒤엎을 때: 희귀 유전 질환의 진단적 복잡성
▶️ 논문읽기

📚 출처: Case reports in neurology
👤 저자: Amandine Goossens et al.
📅 날짜: 2026년 08월 23일

🆔 PMID: 42633474
📄 PMC: PMC13499646
🔗 DOI: 10.1159/000553486

#편두통논문g/%ED%8E%B8%EB%91%90%ED%86%B5%EB%85%BC%EB%AC%B8" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#편두통논문 #편두통hashtag/%ED%8E%B8%EB%91%90%ED%86%B5" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#편두통 #펍메드hashtag/%ED%8E%8D%EB%A9%94%EB%93%9C" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#펍메드
편마비성 편두통이 예상을 뒤엎을 때: 희귀 유전 질환의 진단적 복잡성
서론: 가족성 편마비성 편두통(FHM)은 전조 증상이 동반된 편두통의 드물고 복잡한 유전성 아형으로, 가역적인 운동 전조가 동반된 편두통이 특징이며, 광범위한 신경학적 증상을 보일 수 있어 진단이 특히 어렵다. 증례 보고: 본 보고에서는 장기간 지속되는 편마비, 심한 두통, 의식 장애 및 발열을 동반한 FHM 증례를 제시한다. 이러한 복합적인 증상 양상은 초기에는 급성 뇌졸중, 뇌염 또는 간질 지속증을 시사했다. 정밀한 병력 청취와 표적 유전자 검사(CACNA1A, ATP1A2, SCN1A...
pubmed.ncbi.nlm.nih.gov
August 23, 2026 at 9:42 AM
charlestwild.bsky.social
hundreds of specific molecular targets—such as voltage-gated sodium channels (SCN1A, SCN2A), potassium channels, and GABAergic receptors—allowing for targeted pharmacotherapy (e.g., sodium channel blockers, GABA transaminase inhibitors).
August 15, 2026 at 12:35 PM
biorxivpreprint.bsky.social
Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder https://www.biorxiv.org/content/10.64898/2026.08.04.742893v1
August 10, 2026 at 3:15 AM
biorxiv-neursci.bsky.social
Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder https://www.biorxiv.org/content/10.64898/2026.08.04.742893v1
August 10, 2026 at 3:15 AM
princess-domme.bsky.social
Biggest of hugs. I have SCN9A/SCN1A mutation complex that excludes sodium channel blocker usage. Thank FUCK I have mixed/missense nociceptor phenotype -> algolagnia makes my lumbar CRPS from tethered cord + cauda equina come out as PGAD.

Best thing I ever did was switch PCP to a teaching hospital.
August 7, 2026 at 6:29 AM
medicalxpress.com.web.brid.gy
Inflammation may drive Dravet syndrome, offering a potential new treatment target
An overactive immune response in the brain may play a role in Dravet syndrome, a rare and severe genetic epilepsy that typically begins in infancy, according to Weill Cornell Medicine researchers. Children with the condition experience frequent seizures that are often difficult to control with medication and may also face developmental, cognitive and behavioral challenges. Until now, most research has focused on how a mutation in the SCN1A gene disrupts electrical signaling in the brain.
medicalxpress.com
July 29, 2026 at 1:02 PM
ucldiscovery.bsky.social
Open Access UCL Research: Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers discovery.ucl.ac.uk/id/eprint/10...
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers - UCL Discovery
UCL Discovery is UCL's open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
discovery.ucl.ac.uk
July 28, 2026 at 9:55 AM
rridrobot.bsky.social
RRIDs were included in this in iScience paper. We value the author's support of reproducibility. #RRID #OpenResearch #accelerateopenscience
Age-dependent axonal dysfunctions and altered sharp-wave ripple oscillations in Scn1a+/− mice
Read the full paper: Age-dependent axonal dysfunctions and altered sharp-wave ripple oscillations in Scn1a+/− mice
doi.org
July 23, 2026 at 7:00 AM
neurotherapytdy.bsky.social
This study looks at the clinical presentation of hemiplegic migraine in a family and the role of the SCN1A gene.
www.docwirenews.com/post/qa-scn1...
Q&A: SCN1A Gene and Clinical Presentation in a Family With a History of Hemiplegic Migraine | Docwire News
This study looks at the clinical presentation of hemiplegic migraine in a family and the role of the SCN1A gene.
www.docwirenews.com
July 22, 2026 at 2:24 PM
biorxivpreprint.bsky.social
PV interneuron-targeted CRISPRa rescue of SCN1A haploinsufficiency in Dravet syndrome https://www.biorxiv.org/content/10.64898/2026.07.12.737793v1
July 14, 2026 at 3:16 PM
biorxiv-neursci.bsky.social
PV interneuron-targeted CRISPRa rescue of SCN1A haploinsufficiency in Dravet syndrome https://www.biorxiv.org/content/10.64898/2026.07.12.737793v1
July 14, 2026 at 3:16 PM
chickenmama707.bsky.social
For years I was home hospital teacher for a kid who had a defect in his SCN1A gene. Mom took him to Colorado to check out Charlotte’s Web. It ended up being the last piece in the magic to stop his constant seizures.
June 25, 2026 at 4:01 AM
oligogirl.bsky.social
2. Exclude inclusion of an exon to allow production of partially functional protein (e.g. Duchenne ASOs like eteplirsen). 3. Exclude the inclusion of a cryptic exon (e.g. Milasen). 4. TANGO, the exclusion of an exon that creates a non productive transcript (e.g. @stoketx.bsky.social SCN1A ASO)
June 16, 2026 at 12:04 PM
franmartinezgr.bsky.social
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel #RareDisease #Genetics #ACMG #ClinGen www.sciencedirect.com/science/arti...
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We cre…
www.sciencedirect.com
June 2, 2026 at 5:03 PM
oligogirl.bsky.social
To show broader applicability of the NMA chemistry authors also tested the NMA counterpart of STK-001 and showed that the NMA ASO induced more skipping of exon 20N of SCN1A transcripts. Authors discuss that the NMA ASOs seem to be more potent, but they do not know why.
May 29, 2026 at 7:29 AM
ebisc.bsky.social
📢 New publication uses EBiSC Dravet iPSC lines PFIZi014-A and PFIZi016-A to derive brain organoids for the investigation of underlying pathology in the disease.

pubmed.ncbi.nlm.nih.gov/41323276/

#AI #MachineLearning #Neuroscience #DeepLearning #iPSC #Dravet #Organoids #EBiSC #stemcell
Variability vs. phenotype: Multimodal analysis of Dravet syndrome brain organoids powered by deep learning - PubMed
Dravet syndrome (DS) is a developmental epileptic encephalopathy (DEE) driven by pathogenic variants in the <i>SCN1A</i> gene. Brain organoids (BOs) have emerged as reliable models for neurodevelopmen...
pubmed.ncbi.nlm.nih.gov
May 28, 2026 at 10:46 AM
research.migraine.kr
CACNA1A exon duplications were identified in six patients and deletions found in two. Two patients had ATP1A2 exon deletions, while one had a duplication. For SCN1A, exon deletions were found in three patients and a duplication in one. (🧵 6/9)
May 27, 2026 at 10:51 AM
research.migraine.kr
PPRT2 gene variants including CNVs have also been implicated in hemiplegic migraine. Methods: Multiplex ligation-dependent probe amplification (MLPA) assays were used to investigate the presence of CNVs in the CACNA1A, SCN1A, ATP1A2, and PRRT2 genes in a cohort of 170 unrelated (🧵 3/9)
May 27, 2026 at 10:51 AM
research.migraine.kr
Background: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks. While pathogenic missense variants in CACNA1A, ATP1A2, and SCN1A can cause FHM or its sporadic form, they explain less (🧵 1/9)
May 27, 2026 at 10:51 AM
research.migraine.kr
Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients
▶️ Read Full Paper

📚 Source: Biomedicines
👤 Creator: Thais Zielke et al.
📅 Date: 2026-05-27

#MigrainePapertag/MigrainePaper" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#MigrainePaper #Migraine/hashtag/Migraine" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#Migraine #PubMed="/hashtag/PubMed" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#PubMed
Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients
Background: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks. While pathogenic missense variants in CACNA1A, ATP1A2, and SCN1A can cause FHM or its sporadic form, they explain less ...
pubmed.ncbi.nlm.nih.gov
May 27, 2026 at 10:51 AM