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Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.
Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, McEwen DP, O'Malley HA, Bharucha V, Meadows LS, Knudsen GA, Vilaythong A, Noebels JL, Saunders TL, Scheuer T, Shrager P, Catterall WA, Isom LL. Chen C, et al. J Neurosci. 2004 Apr 21;24(16):4030-42. doi: 10.1523/JNEUROSCI.4139-03.2004. J Neurosci. 2004. PMID: 15102918 Free PMC article.
A functional null mutation of SCN1B in a patient with Dravet syndrome.
Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. Patino GA, et al. J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009. J Neurosci. 2009. PMID: 19710327 Free PMC article.
Conduction block in PMP22 deficiency.
Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Bai Y, et al. J Neurosci. 2010 Jan 13;30(2):600-8. doi: 10.1523/JNEUROSCI.4264-09.2010. J Neurosci. 2010. PMID: 20071523 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. Among authors: o malley ha. 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.
18 results