PDF(Pubmed)
Abstract：
Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Specifically, variants in CACNA1A have been linked to familial hemiplegic migraine and epileptic seizures, underscoring its importance in neurological disease etiology. Furthermore, different genetic variants of CACNA1B have been associated with migraine susceptibility, further highlighting the role of CACNA genes in migraine pathology. The complex relationship between CACNA gene variants and neurological phenotypes, including focal seizures and ataxia, presents a variety of clinical manifestations of impaired calcium channel function. The aim of this article was to explore the role of CACNA genes in various neurological disorders, elucidating their significance in conditions such as migraine, epilepsy, and cerebellar ataxias. Further exploration of CACNA gene variants and their interactions with molecular factors, such as microRNAs, holds promise for advancing our understanding of genetic neurological disorders.
摘要：
钙通道是对钙离子表现出选择性渗透性的专门离子通道。钙通道,包括电压依赖性和配体门控类型，是神经元功能的关键，它们的失调与各种神经系统疾病有关。这篇综述探讨了CACNA基因的意义，包括CACNA1A,CACNA1B,CACNA1C,CACNA1D,CACNA1E,CACNA1G,和CACNA1H，在偏头痛等疾病的发病机理中，癫痫,小脑共济失调,肌张力障碍,和小脑萎缩.具体来说,CACNA1A的变异与家族性偏瘫偏头痛和癫痫发作有关，强调其在神经系统疾病病因学中的重要性。此外，CACNA1B的不同遗传变异与偏头痛易感性有关，进一步强调了CACNA基因在偏头痛病理中的作用。CACNA基因变异与神经表型的复杂关系,包括局灶性癫痫发作和共济失调,钙通道功能受损的临床表现多种多样。本文的目的是探讨CACNA基因在各种神经系统疾病中的作用。阐明它们在偏头痛等疾病中的重要性，癫痫,和小脑共济失调.进一步探索CACNA基因变异及其与分子因子的相互作用，比如microRNA，有望促进我们对遗传性神经系统疾病的理解。
