So-called pharmacoresistant (R-type) voltage-gated Ca2+ channels are structurally only partially characterized. Most of them are encoded by the CACNA1E gene and are expressed as different Cav2.3 splice variants (variant Cav2.3a to Cav2.3e or f) as the ion conducting subunit. So far, no inherited disease is known for the CACNA1E gene but recently spontaneous mutations leading to early death were identified, which will be brought into focus. In addition, a short historical overview may highlight the development to understand that upregulation during aging, easier activation by spontaneous mutations or lack of bioavailable inorganic cations (Zn2+ and Cu2+) may lead to similar pathologies caused by cellular overexcitation.

中文翻译：

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Cav2.3 R型钙通道：从发现到致病的新生CACNA1E变体：历史的观点。

所谓的耐药性（R型）电压门控Ca2 +通道在结构上仅部分表征。它们中的大多数由CACNA1E基因编码，并作为离子传导亚基以不同的Cav2.3剪接变体（从Cav2.3a到Cav2.3e或f的变体）表达。到目前为止，尚无关于CACNA1E基因的遗传疾病，但最近发现了导致早期死亡的自发突变，这将成为人们关注的焦点。此外，简短的历史概述可能会突显这一发展过程，以了解衰老过程中的上调，自发突变更容易激活或缺乏生物可利用的无机阳离子（Zn2 +和Cu2 +）可能会导致细胞过度兴奋而导致类似的病理。