Epilepsy mouse genes

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 (2001) Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 21 6095-6104. 

Of note, mutations in genes encoding Ca channel subunits have been identified in a number of recessive mouse mutants with ataxia. Homozygous point mutation in the alA gene (PI 8021., domain 11 P-region) causes epilepsy and ataxia in the mutant mouse tottering (/g) (reviewed in Jen Ptacek 2000). Novel sequences in the intracellular C-terminus of the al A subunit also resulted in a mutant mouse phenotype, leaner with ataxia and epilepsy (reviewed in... 

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