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| http://purl.uniprot.org/citations/25109669 | http://www.w3.org/2000/01/rdf-schema#comment | "Episodic ataxia type 2 (EA2) is an autosomal dominant disorder associated with attacks of ataxia that are typically precipitated by stress, ethanol, caffeine or exercise. EA2 is caused by loss-of-function mutations in the CACNA1A gene, which encodes the α1A subunit of the CaV2.1 voltage-gated Ca(2+) channel. To better understand the pathomechanisms of this disorder in vivo, we created the first genetic animal model of EA2 by engineering a mouse line carrying the EA2-causing c.4486T>G (p.F1406C) missense mutation in the orthologous mouse Cacna1a gene. Mice homozygous for the mutated allele exhibit a ~70% reduction in CaV2.1 current density in Purkinje cells, though surprisingly do not exhibit an overt motor phenotype. Mice hemizygous for the knockin allele (EA2/-mice) did exhibit motor dysfunction measurable by rotarod and pole test. Studies using Cre-flox conditional genetics explored the role of cerebellar Purkinje cells or cerebellar granule cells in the poor motor performance of EA2/-mice and demonstrate that manipulation of either cell type alone did not cause poor motor performance. Thus, it is possible that subtle dysfunction arising from multiple cell types is necessary for the expression of certain ataxia syndromes."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.expneurol.2014.08.001"xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Fan X."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Heinzer A.K."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Rose S.J."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "van den Maagdenberg A.M."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Hess E.J."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Raike R.S."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/author | "Kriener L.H."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/name | "Exp Neurol"xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/pages | "553-562"xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/title | "The first knockin mouse model of episodic ataxia type 2."xsd:string |
| http://purl.uniprot.org/citations/25109669 | http://purl.uniprot.org/core/volume | "261"xsd:string |
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