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2013 4
2014 25
2015 6
2024 0

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Page 1
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
In the eight families we identified mutations in genes associated with known neurological and epilepsy disorders: ASAH1, FOLR1, GRIN2A (two families), SCN8A, SYNGAP1 and SYNJ1. A novel and rare mutation was identified in KCNQ2 and was likely responsible for the benign seiz …
In the eight families we identified mutations in genes associated with known neurological and epilepsy disorders: ASAH1, FOLR1, GRIN2A (two …
SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy.
Richard CD, Tanenbaum A, Audit B, Arneodo A, Khalil A, Frankel WN. Richard CD, et al. J Neurosci Methods. 2015 Mar 15;242:127-40. doi: 10.1016/j.jneumeth.2014.12.016. Epub 2014 Dec 27. J Neurosci Methods. 2015. PMID: 25549550 Free PMC article.
Strain-specific density distributions were generated from SWDs of mice carrying the Gria4, Gabrg2, or Scn8a mutations to determine whether SWC morphological variants reliably mapped to the same regions of the distribution, and if distribution values could be used to detect …
Strain-specific density distributions were generated from SWDs of mice carrying the Gria4, Gabrg2, or Scn8a mutations to determine wh …
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. D'Adamo MC, et al. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. Front Physiol. 2015. PMID: 25642194 Free PMC article.
Next generation sequencing revealed no variations in the CACNA1A, CACNB4, KCNC3, KCNJ10, PRRT2 or SCN8A genes of either the patient or mother, except for a benign variant in SLC1A3. ...
Next generation sequencing revealed no variations in the CACNA1A, CACNB4, KCNC3, KCNJ10, PRRT2 or SCN8A genes of either the patient o …
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
Wagnon JL, Korn MJ, Parent R, Tarpey TA, Jones JM, Hammer MF, Murphy GG, Parent JM, Meisler MH. Wagnon JL, et al. Hum Mol Genet. 2015 Jan 15;24(2):506-15. doi: 10.1093/hmg/ddu470. Epub 2014 Sep 16. Hum Mol Genet. 2015. PMID: 25227913 Free PMC article.
We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included seizures, ataxia, and sudden unexpected death in epilepsy (SUDEP). ...Scn8a(N1768D) mutant mice provide a model of epileptic encephal …
We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included …
Glial reaction in the spinal cord of the degenerating muscle mouse (Scn8a (dmu)).
Sato T, Fujita M, Shimizu Y, Kanetaka H, Chu LW, Côté PD, Ichikawa H. Sato T, et al. Neurochem Res. 2015 Jan;40(1):124-9. doi: 10.1007/s11064-014-1475-z. Epub 2014 Nov 8. Neurochem Res. 2015. PMID: 25380697
The glial reaction was investigated in the spinal cord of the degenerating muscle (dmu) mouse, which harbours a null mutation in the voltage-gated sodium channel gene Scn8a and does not produce functional Nav1.6 channel. Glial fibrillary acidic protein (GFAP)- and Iba1-imm …
The glial reaction was investigated in the spinal cord of the degenerating muscle (dmu) mouse, which harbours a null mutation in the voltage …
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161
The variant was confirmed in the proband with Sanger sequencing. Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutat …
The variant was confirmed in the proband with Sanger sequencing. Because the clinical phenotype associated with SCN8A mutations has p …
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP. de Kovel CG, et al. Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4. Epilepsy Res. 2014. PMID: 25239001 Free PMC article.
OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). ...This differs from the gain-of-function attributes of the first SCN8A mutation in epileptic encephalopathy, pointing to hete …
OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EI …
25 results