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2014 6
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An update on transcriptional and post-translational regulation of brain voltage-gated sodium channels.
Onwuli DO, Beltran-Alvarez P. Onwuli DO, et al. Amino Acids. 2016 Mar;48(3):641-651. doi: 10.1007/s00726-015-2122-y. Epub 2015 Oct 27. Amino Acids. 2016. PMID: 26503606 Free PMC article. Review.
Here, we review our understanding of regulation of brain voltage-gated sodium channels, in particular SCN1A (NaV1.1), SCN2A (NaV1.2), SCN3A (NaV1.3) and SCN8A (NaV1.6), by transcription factors, by alternative splicing, and by post-translational modifications. ...
Here, we review our understanding of regulation of brain voltage-gated sodium channels, in particular SCN1A (NaV1.1), SCN2A (NaV1.2), SCN3A …
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Wagnon JL, et al. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb. Ann Clin Transl Neurol. 2015. PMID: 26900580 Free PMC article.
OBJECTIVE: The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. ...C …
OBJECTIVE: The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD. Horvath GA, et al. Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17. Mol Genet Metab. 2016. PMID: 26647175
In an 8-year old female with an early onset intractable epileptic encephalopathy, developmental regression, and progressive cerebellar atrophy, a previously unreported de novo missense mutation was identified in SCN8A (c.5615G>A; p.Arg1872Gln), affecting a highly conser …
In an 8-year old female with an early onset intractable epileptic encephalopathy, developmental regression, and progressive cerebellar atrop …
An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.
Makinson CD, Dutt K, Lin F, Papale LA, Shankar A, Barela AJ, Liu R, Goldin AL, Escayg A. Makinson CD, et al. Exp Neurol. 2016 Jan;275 Pt 1(0 1):46-58. doi: 10.1016/j.expneurol.2015.09.008. Epub 2015 Sep 26. Exp Neurol. 2016. PMID: 26410685 Free PMC article.
Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy mutations. We have previously demonstrated that Scn8a(med) and Scn8a(med-jo) mice carrying mutations in the Scn8a gene disp …
Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy muta …
Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium.
Krause U, Alflen C, Steinmetz M, Müller MJ, Quentin T, Paul T. Krause U, et al. Mol Cell Pediatr. 2015 Dec;2(1):5. doi: 10.1186/s40348-015-0015-5. Epub 2015 Mar 11. Mol Cell Pediatr. 2015. PMID: 26542295 Free PMC article.
Whereas SCN5A RNA increased to maximum levels on day 21 after birth, the highest SCN1A RNA levels were detected on day 1 to 7 after birth. SCN8A RNA was maximally expressed during embryonic development. At the protein level, the amount of SCN5A protein increased along with …
Whereas SCN5A RNA increased to maximum levels on day 21 after birth, the highest SCN1A RNA levels were detected on day 1 to 7 after birth. …
The Expanding SCN8A-Related Epilepsy Phenotype.
Poduri A. Poduri A. Epilepsy Curr. 2015 Nov-Dec;15(6):333-4. doi: 10.5698/1535-7511-15.6.333. Epilepsy Curr. 2015. PMID: 26633954 Free PMC article. No abstract available.
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
Berghuis B, de Kovel CG, van Iterson L, Lamberts RJ, Sander JW, Lindhout D, Koeleman BP. Berghuis B, et al. Epilepsy Res. 2015 Sep;115:141-4. doi: 10.1016/j.eplepsyres.2015.06.007. Epub 2015 Jun 15. Epilepsy Res. 2015. PMID: 26220391
BACKGROUND: De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. ...CONCLUSIONS: The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other po …
BACKGROUND: De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. ...CONCLUSION …
42 results