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Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells.
Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, Brodbeck J, Canti C, Meir A, Page KM, Kusumi K, Perez-Reyes E, Lander ES, Frankel WN, Gardiner RM, Dolphin AC, Rees M. Barclay J, et al. Among authors: rees m. J Neurosci. 2001 Aug 15;21(16):6095-104. doi: 10.1523/JNEUROSCI.21-16-06095.2001. J Neurosci. 2001. PMID: 11487633 Free PMC article.
Mouse models of spike-wave epilepsy.
Barclay J, Rees M. Barclay J, et al. Among authors: rees m. Epilepsia. 1999;40 Suppl 3:17-22. doi: 10.1111/j.1528-1157.1999.tb00894.x. Epilepsia. 1999. PMID: 10446746 Free article. Review.
The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
Brodbeck J, Davies A, Courtney JM, Meir A, Balaguero N, Canti C, Moss FJ, Page KM, Pratt WS, Hunt SP, Barclay J, Rees M, Dolphin AC. Brodbeck J, et al. Among authors: rees m. J Biol Chem. 2002 Mar 8;277(10):7684-93. doi: 10.1074/jbc.M109404200. Epub 2001 Dec 26. J Biol Chem. 2002. PMID: 11756448 Free article.
Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region.
Elmslie FV, Williamson MP, Rees M, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Richens A, Chadwick D, Whitehouse WP, Gardiner RM. Elmslie FV, et al. Among authors: rees m. Am J Hum Genet. 1996 Sep;59(3):653-63. Am J Hum Genet. 1996. PMID: 8751867 Free PMC article.
1,264 results