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 1
2021 6
2022 51
2023 6
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

51 results

Results by year

Filters applied: . Clear all
Page 1
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I. Clatot J, et al. Epilepsia. 2023 May;64(5):1318-1330. doi: 10.1111/epi.17444. Epub 2022 Nov 14. Epilepsia. 2023. PMID: 36287100
The observed functional changes closely paralleled effects of pathogenic variants in SCN3A and SCN8A at corresponding positions. Both wild type and variant exhibited sensitivity to block by oxcarbazepine, partially correcting electrophysiological abnormalities of the SCN1A …
The observed functional changes closely paralleled effects of pathogenic variants in SCN3A and SCN8A at corresponding positions. Both …
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
Bayraktar E, Liu Y, Sonnenberg L, Hedrich UBS, Sara Y, Eltokhi A, Lyu H, Lerche H, Wuttke TV, Lauxmann S. Bayraktar E, et al. Br J Pharmacol. 2023 Apr;180(8):1038-1055. doi: 10.1111/bph.15981. Epub 2022 Dec 19. Br J Pharmacol. 2023. PMID: 36321697
BACKGROUND AND PURPOSE: Variants in SCN8A, the Na(V) 1.6 channel's coding gene, are characterized by a variety of symptoms, including intractable epileptic seizures, psychomotor delay, progressive cognitive decline, autistic features, ataxia or dystonia. ...Personalized tr …
BACKGROUND AND PURPOSE: Variants in SCN8A, the Na(V) 1.6 channel's coding gene, are characterized by a variety of symptoms, including …
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Odgis JA, et al. Am J Med Genet A. 2023 Mar;191(3):699-710. doi: 10.1002/ajmg.a.63062. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36563179 Free PMC article.
We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) were considered to be causative for the proband's phenotype, and two of apparent parental mosaicism. Variants were identified in the following …
We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS) and/or targeted gene panels (TGPs) wer …
Population pharmacokinetics of oxcarbazepine 10-monohydroxy derivative in Chinese adult epileptic patients.
Yang Q, Hu Y, Zhang X, Zhang X, Dai H, Li X. Yang Q, et al. Eur J Hosp Pharm. 2023 Mar;30(e1):e90-e96. doi: 10.1136/ejhpharm-2022-003357. Epub 2022 Jul 4. Eur J Hosp Pharm. 2023. PMID: 35787526 Free PMC article.
We collected various data from patients including their demographic, pathological, and physiological information. MassARRAY method was used to detect ABCC2, ABCB1, SCN8A, SCN1A, SCN2A, SCN3A, UGT1A9, and UGT2B7 gene polymorphisms. ...
We collected various data from patients including their demographic, pathological, and physiological information. MassARRAY method was used …
Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.
Negi S, Sahu JK, Bhatia P, Kaur A, Malhi P, Singh G, Arora A, Sankhyan N, Kharbanda PS. Negi S, et al. Lancet Reg Health Southeast Asia. 2022 Nov 16;8:100094. doi: 10.1016/j.lansea.2022.100094. eCollection 2023 Jan. Lancet Reg Health Southeast Asia. 2022. PMID: 37384142 Free PMC article.
Most pathogenic variants were found in SCN1A gene (n = 21/33; 64%), SCN8A in 2 children, and 10 children had one variant in CDKL5, DEPDC5, GNAO1, KCNA2, KCNT1, KCNQ2, NPRL3, PCDH19, RHOBTB2, and SLC2A1. ...
Most pathogenic variants were found in SCN1A gene (n = 21/33; 64%), SCN8A in 2 children, and 10 children had one variant in CDKL5, DE …
Bioinformatics and network pharmacology analysis of drug targets and mechanisms related to the comorbidity of epilepsy and migraine.
Shen Z, Pu S, Cao X, Tang M, Wang S, Bai D, Jiang G. Shen Z, et al. Epilepsy Res. 2023 Jan;189:107066. doi: 10.1016/j.eplepsyres.2022.107066. Epub 2022 Dec 15. Epilepsy Res. 2023. PMID: 36571905
The 10 genes with potentially important roles in epilepsy and migraine were CACNA1A, KCNQ2, KCNA1, SCN1A, PRRT2, SCN8A, KCNQ3, SCN2A, GRIN2A, and GABRG2. Drugbank database results indicated that antiepileptic drugs, including lamotrigine, topiramate, valproic acid, carbama …
The 10 genes with potentially important roles in epilepsy and migraine were CACNA1A, KCNQ2, KCNA1, SCN1A, PRRT2, SCN8A, KCNQ3, SCN2A, …
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N, Mosallaei M, Beheshtian M, Khoshbakht S, Fadaee M, Vazehan R, Faraji Zonooz M, Karimzadeh P, Kahrizi K, Najmabadi H. Ehtesham N, et al. Arch Iran Med. 2022 Dec 1;25(12):788-797. doi: 10.34172/aim.2022.124. Arch Iran Med. 2022. PMID: 37543906 Free PMC article.
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel …
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectua …
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.
Guo QB, Zhan L, Xu HY, Gao ZB, Zheng YM. Guo QB, et al. Acta Pharmacol Sin. 2022 Dec;43(12):3139-3148. doi: 10.1038/s41401-022-00955-x. Epub 2022 Jul 27. Acta Pharmacol Sin. 2022. PMID: 35902765 Free PMC article.
De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel Na(V)1.6 are linked to a severe form of early infantile epileptic encephalopathy named early infantile epileptic encephalopathy type13 (EIEE13). ...
De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel Na(V)1.6 are linked to a severe form of early infantil …
Perioperative Management and Considerations for Patients With Voltage-Gated Sodium Channel Mutations: A Pediatric Case Report.
Fahy JF, Emerling EW, Sterni LM. Fahy JF, et al. A A Pract. 2022 Nov 11;16(11):e01637. doi: 10.1213/XAA.0000000000001637. eCollection 2022 Nov 1. A A Pract. 2022. PMID: 36599048
A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral mastectomy for painful juvenile fibroadenomatosis. ...In this article, we discuss what is known regarding the physiology of SCN8A channels …
A 13-year-old girl with a voltage-gated sodium channel mutation (SCN8A)-associated intractable epilepsy presented for bilateral maste …
51 results