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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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| Publicado no: | J Neurosci |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2005
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| Assuntos: | |
| Acesso em linha: | 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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