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Article

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 11 May 2005

Vitko Iuliia, Chen Yucai, Arias Juan M, Shen Yen, Wu Xi-Ru, Perez-Reyes Edward

Abstract excerpt

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...

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Share to Calcium Channels, T-Type
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Epilepsy, Absence

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Source

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Identifiers

PMID: 15888660
DOI: 10.1523/JNEUROSCI.0847-05.2005
PMCID: PMC6724770

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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