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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: kaczmarek lk. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
Protein kinase C modulates inactivation of Kv3.3 channels.
Desai R, Kronengold J, Mei J, Forman SA, Kaczmarek LK. Desai R, et al. Among authors: kaczmarek lk. J Biol Chem. 2008 Aug 8;283(32):22283-94. doi: 10.1074/jbc.M801663200. Epub 2008 Jun 6. J Biol Chem. 2008. PMID: 18539595 Free PMC article.
A less flexible BK channel opens more easily.
Kronengold J, Kaczmarek LK. Kronengold J, et al. Among authors: kaczmarek lk. Neuron. 2010 Jun 24;66(6):817-8. doi: 10.1016/j.neuron.2010.06.013. Neuron. 2010. PMID: 20620867 Free PMC article.
Potassium channel modulation and auditory processing.
Brown MR, Kaczmarek LK. Brown MR, et al. Among authors: kaczmarek lk. Hear Res. 2011 Sep;279(1-2):32-42. doi: 10.1016/j.heares.2011.03.004. Epub 2011 Mar 21. Hear Res. 2011. PMID: 21414395 Free PMC article. Review.
246 results