The mouse mutant ducky, a model for absence epi-lepsy, is characterized by spike-wave seizures and cere-bellar ataxia. A mutation in Cacna2d2, the gene encod-ing the 2-2 voltage-dependent calcium channel accessory subunit, has been found to underlie the ducky phenotype. The 2-2 mRNA is strongly expressed in cerebellar Purkinje cells. We show that du/du mice have abnormalities in their Purkinje cell dendritic tree. The mutation in 2-2 results in the introduction of a prema-ture stop codon and predicts the expression of a trun-cated protein encoded by the first three exons of Cacna2d2, followed by 8 novel amino acids. We show that both mRNA and protein corresponding to this pre-dicted transcript are expressed in du/du cerebellum and present i...
Cav2.1 channels are expressed throughout the brain and are the predominant Ca2+ channels in the Purk...
Mutations in the CACNA1A gene are associated with neurological disorders, such as ataxia, hemiplegic...
Voltage-gated calcium (CaV) channels form three sub-families (CaV1-3). The CaV1 and CaV2 channels ar...
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and at...
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and at...
Positional cloning identified the genomic rearrangement disrupting the Cacna2d2 gene to underlie the...
The rocker mice are hereditary ataxic mutants, which carry a point mutation in the geneencoding the ...
textabstractThe Cacna1a gene encodes the α1A subunit of voltage-gated CaV2.1 Ca2+ channels that are ...
International audienceEpisodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked...
The Cacna1a gene encodes the alpha(1A) subunit of voltage-gated Ca(V)2.1 Ca2+ channels that are invo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
<div><p>Contribution to epileptic encephalopathy (EE) of mutations in <i>CACNA2D2</i>, encoding α2δ-...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Vo...
Cav2.1 channels are expressed throughout the brain and are the predominant Ca2+ channels in the Purk...
Mutations in the CACNA1A gene are associated with neurological disorders, such as ataxia, hemiplegic...
Voltage-gated calcium (CaV) channels form three sub-families (CaV1-3). The CaV1 and CaV2 channels ar...
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and at...
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and at...
Positional cloning identified the genomic rearrangement disrupting the Cacna2d2 gene to underlie the...
The rocker mice are hereditary ataxic mutants, which carry a point mutation in the geneencoding the ...
textabstractThe Cacna1a gene encodes the α1A subunit of voltage-gated CaV2.1 Ca2+ channels that are ...
International audienceEpisodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked...
The Cacna1a gene encodes the alpha(1A) subunit of voltage-gated Ca(V)2.1 Ca2+ channels that are invo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
<div><p>Contribution to epileptic encephalopathy (EE) of mutations in <i>CACNA2D2</i>, encoding α2δ-...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding a2d-2 subunit of Vo...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Vo...
Cav2.1 channels are expressed throughout the brain and are the predominant Ca2+ channels in the Purk...
Mutations in the CACNA1A gene are associated with neurological disorders, such as ataxia, hemiplegic...
Voltage-gated calcium (CaV) channels form three sub-families (CaV1-3). The CaV1 and CaV2 channels ar...