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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.
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. Veeramah KR, et al. Am J Hum Genet. 2012 Mar 9;90(3):502-10. doi: 10.1016/j.ajhg.2012.01.006. Epub 2012 Feb 23. Am J Hum Genet. 2012. PMID: 22365152 Free PMC article.
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM. Liu Y, et al. Ann Neurol. 2013 Jul;74(1):128-39. doi: 10.1002/ana.23897. Epub 2013 Jul 2. Ann Neurol. 2013. PMID: 23821540 Free PMC article.
Genome-wide patterns of gene flow across a house mouse hybrid zone.
Teeter KC, Payseur BA, Harris LW, Bakewell MA, Thibodeau LM, O'Brien JE, Krenz JG, Sans-Fuentes MA, Nachman MW, Tucker PK. Teeter KC, et al. Genome Res. 2008 Jan;18(1):67-76. doi: 10.1101/gr.6757907. Epub 2007 Nov 19. Genome Res. 2008. PMID: 18025268 Free PMC article.
250 results