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<i>CACNA1C</i> variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders

6 Aug 2026

Abstract excerpt

Purpose CACNA1C variants have been identified in cardiac arrhythmias and developmental disorders (DD). Here, we aimed to explore the association between CACNA1C and epilepsy and the mechanism underlying phenotypic heterogeneity. Methods Trio-based whole-exome sequencing was performed in patients with focal epilepsy. Genes with recurrently identified variants were selected for further studies. Results Three de...

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PMID: 42562628
DOI: 10.1136/jmg-2025-110918

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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