L'institut du Thorax, INSERM UMR1087/CNRS UMR6291, Université de Nantes, Nantes, France.
Université de Tunis El Manar, Faculté de Médecine de Tunis, LR99ES10 Laboratoire de Génétique Humaine, 1007, Tunis, Tunisie.
Brain Behav. 2018 Aug;8(8):e00978. doi: 10.1002/brb3.978. Epub 2018 Jun 22.
Autism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders.
A narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted.
Genome-wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD.
This review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD.
自闭症谱系障碍（ASD）是一组神经发育性精神障碍，其特征为社交互动、人际沟通、重复刻板行为方面的缺陷，可能伴有智力障碍。将 ASD 描述为突触病，强调了突触的重要性以及离子通道在这些疾病发病机制中的意义。
作者对 1982 年至 2017 年的相关文献进行了叙述性和批判性回顾。
全基因组连锁、ASD 患者的关联研究和遗传分析导致了几个与 ASD 相关的候选基因和突变的鉴定。许多候选基因编码参与神经元发育和调节突触功能的蛋白质，包括离子通道和参与突触形成的因子。离子通道在 ASD 中的作用引起了广泛关注，因为它们是很有吸引力的治疗靶点。这一观点得到了最近的发现的支持，这些发现表明，调节离子通道功能的药物对某些类型的 ASD 患者的治疗有效。
本文描述了 ASD 的遗传方面，重点介绍了编码离子通道的基因，并强调了离子通道在 ASD 治疗中的治疗意义。
