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Functional Characterization and Neuronal Modeling of the Effects of Childhood Absence Epilepsy Variants of CACNA1H, a T-Type Calcium Channel
Sequencing of the T-type Ca(2+) 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,...
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| Udgivet i: | J Neurosci |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Society for Neuroscience
2005
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6724770/ https://ncbi.nlm.nih.gov/pubmed/15888660 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0847-05.2005 |
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