Background: The voltage-dependent calcium channel α1 subunit (CACNA1A) gene plays a major role in neuronal communication. Mutation in this gene results in altered Ca²⁺ ion influx that modify the neurotransmitter release resulting in the development of various neurological disorders like hemiplegic migraine with cortical spreading depression, epilepsy, episodic ataxia type 2, and spinocerebellar ataxia type 6.
Objective: This review aimed in portraying the frequent mutations in CACNA1A gene causing hemiplegic migraine with cortical spreading depression, epilepsy, episodic ataxia type 2 and spinocerebellar ataxia type 6.
Methodology: A systematic search has been adopted in various databases using the keywords “Calcium channel,” “migraine,” “epilepsy,” “episodic ataxia,” and “spinocerebellar ataxia” for writing this review that collectively focuses on mutations in the CACNA1A gene causing the common neurological diseases from 1975 to 2019.
Conclusion: Every type of mutation has its own signature in gene functioning and understanding them might aid knowing more in disease progression.


中文翻译：

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电压依赖性钙通道 CACNA1A（P/Q 型 alpha 1A 亚基）突变导致神经系统疾病 - 概述


背景：电压依赖性钙通道 α1 亚基 ( CACNA1A ) 基因在神经元通讯中起主要作用。该基因的突变导致 Ca ²⁺离子流入改变，从而改变神经递质释放，从而导致各种神经系统疾病的发展，例如伴有皮质扩散性抑制的偏瘫偏头痛、癫痫、2 型发作性共济失调和 6 型脊髓小脑性
共济失调。旨在描绘CACNA1A基因的频繁突变导致偏瘫性偏头痛伴皮质扩散性抑制、癫痫、发作性共济失调 2 型和脊髓小脑共济失调 6 型。
方法：使用关键词“钙通道”、“偏头痛”、“癫痫”、“发作性共济失调”和“脊髓小脑性共济失调”在各种数据库中进行了系统搜索，以撰写这篇综述，共同关注导致CACNA1A基因突变的原因。 1975 年至 2019 年的常见神经系统疾病。
结论：每种类型的突变在基因功能方面都有自己的特征，了解它们可能有助于了解更多疾病进展。