L-type voltage-gated calcium channels play an essential role in various physiological systems including neuronal excitation and any mutation or dysfunction in the channel has significant impact on human brain function resulting in psychiatric diseases. Particular gain-of-function mutations in CACNA1C encoding Ca_V1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype. Efforts to understand the underlying pathophysiology and find therapeutic strategy have been spurred recently with the advances in stem cell technology, in particular those arising from patient-derived sources. In this review, we report on the recent advances in Timothy Syndrome research and on the methods used to study this disease.

L型电压门控钙通道在包括神经元兴奋在内的各种生理系统中发挥着重要作用，通道中的任何突变或功能障碍都会对人脑功能产生重大影响，从而导致精神疾病。编码 Ca _V 1.2 的CACNA1C 中特定的功能获得性突变与蒂莫西综合征有关，这是一种具有多器官表型的破坏性疾病。随着干细胞技术的进步，尤其是那些源自患者的干细胞技术，最近人们努力了解潜在的病理生理学并寻找治疗策略。在这篇综述中，我们报告了蒂莫西综合征研究的最新进展以及用于研究这种疾病的方法。