Article
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Aug 2001
Barclay J, Balaguero N, Mione M, Ackerman S L, Letts V A, Brodbeck J, Canti C, Meir A, Page K M, Kusumi K, Perez-Reyes E, Lander E S, Frankel W N, Gardiner R M, Dolphin A C, Rees M
Abstract excerpt
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia. The ducky gene was mapped previously to distal mouse chromosome 9. High-resolution genetic and physical mapping has resulted in the identification of the Cacna2d2 gene encoding the alpha2delta2 voltage-dependent calcium channel subunit. Mutations in Cacna2d2 were found to underlie the ducky phenotype in the...
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