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- W2049006504 abstract "Sequencing of the T-type Ca2+ channel gene CACNA1H revealed 12 nonsynonymous single nucleotide polymorphisms (SNPs) that were found only in childhood absence epilepsy (CAE) patients. One SNP, G773D, was found in two patients. The present study reports the finding of a third patient with this SNP, as well as analysis of their parents. Because of the role of T-channels in determining the intrinsic firing patterns of neurons involved in absence seizures, it was suggested that these SNPs might alter channel function. The goal of the present study was to test this hypothesis by introducing these polymorphisms into a human Ca(v)3.2a cDNA and then study alterations in channel behavior using whole-cell patch-clamp recording. Eleven SNPs altered some aspect of channel gating. Computer simulations predict that seven of the SNPs would increase firing of neurons, with three of them inducing oscillations at similar frequencies, as observed during absence seizures. Three SNPs were predicted to decrease firing. Some CAE-specific SNPs (e.g., G773D) coexist with SNPs also found in controls (R788C); therefore, the effect of these polymorphisms were studied. The R788C SNP altered activity in a manner that would also lead to enhanced burst firing of neurons. The G773D-R788C combination displayed different behavior than either single SNP. Therefore, common polymorphisms can alter the effect of CAE-specific SNPs, highlighting the importance of sequence background. These results suggest that CACNA1H is a susceptibility gene that contributes to the development of polygenic disorders characterized by thalamocortical dysrhythmia, such as CAE." @default.
- W2049006504 created "2016-06-24" @default.
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- W2049006504 date "2005-05-11" @default.
- W2049006504 modified "2023-10-16" @default.
- W2049006504 title "Functional Characterization and Neuronal Modeling of the Effects of Childhood Absence Epilepsy Variants of<i>CACNA1H</i>, a T-Type Calcium Channel" @default.
- W2049006504 cites W1481839654 @default.
- W2049006504 cites W1547957511 @default.
- W2049006504 cites W1565233457 @default.
- W2049006504 cites W1610976729 @default.
- W2049006504 cites W1669283316 @default.
- W2049006504 cites W1812452468 @default.
- W2049006504 cites W1845250825 @default.
- W2049006504 cites W1886118302 @default.
- W2049006504 cites W1912638889 @default.
- W2049006504 cites W1927501767 @default.
- W2049006504 cites W1955585424 @default.
- W2049006504 cites W1962046274 @default.
- W2049006504 cites W1975784530 @default.
- W2049006504 cites W1980385275 @default.
- W2049006504 cites W1985557212 @default.
- W2049006504 cites W1997893262 @default.
- W2049006504 cites W2011482016 @default.
- W2049006504 cites W2016291783 @default.
- W2049006504 cites W2020637553 @default.
- W2049006504 cites W2022890204 @default.
- W2049006504 cites W2025354712 @default.
- W2049006504 cites W2026015475 @default.
- W2049006504 cites W2029080264 @default.
- W2049006504 cites W2032261055 @default.
- W2049006504 cites W2041741736 @default.
- W2049006504 cites W2042036678 @default.
- W2049006504 cites W2044881390 @default.
- W2049006504 cites W2047857929 @default.
- W2049006504 cites W2052602160 @default.
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- W2049006504 cites W2060229932 @default.
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- W2049006504 cites W2062358209 @default.
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- W2049006504 cites W2103311642 @default.
- W2049006504 cites W2104827156 @default.
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- W2049006504 cites W2150497419 @default.
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- W2049006504 cites W2156759341 @default.
- W2049006504 cites W2160993714 @default.
- W2049006504 cites W2168779967 @default.
- W2049006504 cites W2171830917 @default.
- W2049006504 cites W2185003919 @default.
- W2049006504 cites W2187230393 @default.
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- W2049006504 doi "https://doi.org/10.1523/jneurosci.0847-05.2005" @default.
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