Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 5
2021 53
2022 6
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

53 results

Results by year

Filters applied: . Clear all
Page 1
Neuraxial block anesthetic technique in a patient with SCN8A encephalopathy: case report.
Machado EGE, Bill IDRC, Ara Jo MMPDN, Neves JFNPD, Mau S GL, Marcos MFB, Ara Jo FP. Machado EGE, et al. Braz J Anesthesiol. 2022 Nov-Dec;72(6):826-828. doi: 10.1016/j.bjane.2020.08.013. Epub 2021 Feb 4. Braz J Anesthesiol. 2022. PMID: 36357057 Free PMC article.
Mutations in SCN8A gene lead to changes in sodium channels in the brain, which are correlated with severe epileptic syndrome. ...CONCLUSION: The association of neuraxial block and dexmedetomidine proved to be a viable alternative for surgery in patients with SCN8A e …
Mutations in SCN8A gene lead to changes in sodium channels in the brain, which are correlated with severe epileptic syndrome. ...CONC …
Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.
Hu C, Luo T, Wang Y. Hu C, et al. Seizure. 2022 Feb;95:38-49. doi: 10.1016/j.seizure.2021.12.011. Epub 2021 Dec 25. Seizure. 2022. PMID: 34979445 Free article.
METHODS: A cohort of fifty Chinese patients with SCN8A-related disorders was included in the retrospective study. ...Three new variants were associated with SCN8A-BIE. Sodium channel blockers were effective in treating seizures for some SCN8A-related disorder …
METHODS: A cohort of fifty Chinese patients with SCN8A-related disorders was included in the retrospective study. ...Three new varian …
Peri-Ictal Autonomic Control of Cardiac Function and Seizure-Induced Death.
Wenker IC, Blizzard EA, Wagley PK, Patel MK. Wenker IC, et al. Front Neurosci. 2022 Jan 21;15:795145. doi: 10.3389/fnins.2021.795145. eCollection 2021. Front Neurosci. 2022. PMID: 35126041 Free PMC article.
Seizures were induced by electrical stimulation of the hippocampus of a mouse carrying the human SCN8A encephalopathy mutation p.Asn1768Asp (N1768D; "D/+ mice"). ...
Seizures were induced by electrical stimulation of the hippocampus of a mouse carrying the human SCN8A encephalopathy mutation p.Asn1 …
Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy.
Yu W, Mulligan MK, Williams RW, Meisler MH. Yu W, et al. HGG Adv. 2021 Oct 8;3(1):100064. doi: 10.1016/j.xhgg.2021.100064. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047853 Free PMC article.
De novo gain-of-function mutations of SCN8A are a significant cause of developmental and epileptic encephalopathy (DEE) (MIM: 614558). The severely affected individuals exhibit refractory seizures, developmental delay, and cognitive disabilities, often accompanied by impai …
De novo gain-of-function mutations of SCN8A are a significant cause of developmental and epileptic encephalopathy (DEE) (MIM: 614558) …
SUDEP risk and autonomic dysfunction in genetic epilepsies.
Sahly AN, Shevell M, Sadleir LG, Myers KA. Sahly AN, et al. Auton Neurosci. 2022 Jan;237:102907. doi: 10.1016/j.autneu.2021.102907. Epub 2021 Nov 10. Auton Neurosci. 2022. PMID: 34773737 Review.
For individuals with pathogenic variants in genes including SCN1A, SCN1B, SCN8A, SCN2A, GNB5, KCNA1 and DEPDC5, there are varying degrees of evidence to suggest an increased risk for sudden death. ...
For individuals with pathogenic variants in genes including SCN1A, SCN1B, SCN8A, SCN2A, GNB5, KCNA1 and DEPDC5, there are varying deg …
Genomic analysis of "microphenotypes" in epilepsy.
Stanley K, Hostyk J, Tran L, Amengual-Gual M, Dugan P, Clark J, Choi H, Tchapyjnikov D, Perucca P, Fernandes C, Andrade D, Devinsky O; pSERG Consortium, the EPIGEN Consortium; Cavalleri GL, Depondt C, Sen A, O'Brien T, Heinzen E, Loddenkemper T, Goldstein DB, Mikati MA, Delanty N. Stanley K, et al. Am J Med Genet A. 2022 Jan;188(1):138-146. doi: 10.1002/ajmg.a.62505. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569149
Although no single gene reached exome-wide statistical significance to be associated with any of the diagnostic categories, we observe enrichment of rare damaging variants in established epilepsy genes among Landau-Kleffner patients (GRIN2A) and pediatric status epilepticus patie …
Although no single gene reached exome-wide statistical significance to be associated with any of the diagnostic categories, we observe enric …
A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
Liu Y, Koko M, Lerche H. Liu Y, et al. Epilepsy Res. 2021 Dec;178:106824. doi: 10.1016/j.eplepsyres.2021.106824. Epub 2021 Nov 23. Epilepsy Res. 2021. PMID: 34847423
SCN8A, encoding the voltage-gated sodium channel subunit Na(V)1.6, has been associated with a wide spectrum of neuropsychiatric disorders. Missense variants in SCN8A which increase the channel activity can cause a severe developmental and epileptic encephalopathy (D …
SCN8A, encoding the voltage-gated sodium channel subunit Na(V)1.6, has been associated with a wide spectrum of neuropsychiatric disor …
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V, Martínez N, Maturo JP, Rodriguez-Quiroga SA, Zavala L, Medina N, Amartino H, Sfaello I, Agosta G, Serafín EM, Morón DG, Kauffman MA, Vega P. Salinas V, et al. Eur J Med Genet. 2021 Dec;64(12):104363. doi: 10.1016/j.ejmg.2021.104363. Epub 2021 Oct 18. Eur J Med Genet. 2021. PMID: 34673242
In consequence of the re-interpretation and re-analysis, we identified novel variants in the genes: CHD2, COL4A1, FOXG1, GABRA1, GRIN2B, HNRNPU, KCNQ2, MECP2, PCDH19, SCN1A, SCN2A, SCN8A, SLC6A1, STXBP1 and WWOX. Our results expand the diagnostic yield of this subgroup of …
In consequence of the re-interpretation and re-analysis, we identified novel variants in the genes: CHD2, COL4A1, FOXG1, GABRA1, GRIN2B, HNR …
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Hoei-Hansen CE, Tygesen MLB, Dunø M, Vissing J, Ballegaard M, Born AP. Hoei-Hansen CE, et al. Neuropediatrics. 2021 Dec;52(6):462-468. doi: 10.1055/s-0041-1726120. Epub 2021 Mar 11. Neuropediatrics. 2021. PMID: 33706403
Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes. CONCLUSION: Results supporting a neuromuscular abnormality were found in 15 of 24. ...
Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, …
Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.
Wong JC, Butler KM, Shapiro L, Thelin JT, Mattison KA, Garber KB, Goldenberg PC, Kubendran S, Schaefer GB, Escayg A. Wong JC, et al. Front Pharmacol. 2021 Nov 17;12:748415. doi: 10.3389/fphar.2021.748415. eCollection 2021. Front Pharmacol. 2021. PMID: 34867351 Free PMC article.
Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. ...To date, there are only a few Scn8a mouse models with in-frame deletions or insertions, and notably, none of these mouse lines exhibit increased seizure susceptib …
Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. ...To date, there are only a few …
53 results