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SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.
Hammer MF, Xia M, Schreiber JM. Hammer MF, et al. 2016 Aug 25 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Aug 25 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27559564 Free Books & Documents. Review.
MANAGEMENT: Targeted therapy: Several studies suggest a favorable response to sodium channel blockers in the SCN8A-related epilepsy phenotypes of SCN8A-DEE, SCN8A-mild/modDEE, and SCN8A-SeLFIE. ...Each child of an individual with SCN8A-related e …
MANAGEMENT: Targeted therapy: Several studies suggest a favorable response to sodium channel blockers in the SCN8A-related epilepsy p …
Consequences of acute Nav1.1 exposure to deltamethrin.
James TF, Nenov MN, Tapia CM, Lecchi M, Koshy S, Green TA, Laezza F. James TF, et al. Neurotoxicology. 2017 May;60:150-160. doi: 10.1016/j.neuro.2016.12.005. Epub 2016 Dec 19. Neurotoxicology. 2017. PMID: 28007400 Free PMC article.
Precision medicine in genetic epilepsies: break of dawn?
Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM. Reif PS, et al. Expert Rev Neurother. 2017 Apr;17(4):381-392. doi: 10.1080/14737175.2017.1253476. Epub 2016 Nov 10. Expert Rev Neurother. 2017. PMID: 27781560 Review.
Expert commentary: Currently established or investigated precision medicine treatments include the ketogenic diet in patients with GLUT1 deficiency, sodium channel blockers in patients with KCNQ2, SCN2A and SCN8A mutations as well as mTOR-inhibitors in mTORopathies. These …
Expert commentary: Currently established or investigated precision medicine treatments include the ketogenic diet in patients with GLUT1 def …
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group; Guerrini R. Parrini E, et al. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9. Hum Mutat. 2017. PMID: 27864847
SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. ...
SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were iden …
Altered gene expression profile in a mouse model of SCN8A encephalopathy.
Sprissler RS, Wagnon JL, Bunton-Stasyshyn RK, Meisler MH, Hammer MF. Sprissler RS, et al. Exp Neurol. 2017 Feb;288:134-141. doi: 10.1016/j.expneurol.2016.11.002. Epub 2016 Nov 9. Exp Neurol. 2017. PMID: 27836728 Free PMC article.
SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo gain-of-function mutations in the voltage-gated sodium channel Na(v)1.6. ...The data support the view that gain-of-function mutations of SCN8A lead to pathogenic alterations in br
SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo gain-of-function mutations in the voltage-gate
FGF14 is a regulator of KCNQ2/3 channels.
Pablo JL, Pitt GS. Pablo JL, et al. Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):154-159. doi: 10.1073/pnas.1610158114. Epub 2016 Dec 19. Proc Natl Acad Sci U S A. 2017. PMID: 27994149 Free PMC article.
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. Butler KM, et al. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6. Epilepsy Res. 2017. PMID: 27875746 Free PMC article.
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. ...METHODS: Sequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A. …
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic te …
41 results