Seizures are the most common neurological manifestation in the newborn period, with an estimated incidence of 1.8-3.5 per 1000 live births. Prolonged or intractable seizures have a detrimental effect on cognition and brain function in experimental animals and are associated with adverse long-term neurodevelopmental sequelae and an increased risk of post-neonatal epilepsy in humans. The developing brain is particularly susceptible to the potentially severe effects of epilepsy, and epilepsy, especially when refractory to medications, often results in a developmental and epileptic encephalopathy (DEE) with developmental arrest or regression. DEEs can be primarily attributed to genetic causes. Given the critical role of potassium (K+) currents with distinct subcellular localization, biophysical properties, modulation, and pharmacological profile in regulating intrinsic electrical properties of neurons and their responsiveness to synaptic inputs, it is not too surprising that genetic research in the past two decades has identified several K+ channel genes as responsible for a large fraction of DEE. In the present article, we review the genetically determined epileptic channelopathies affecting three members of the Kv7 family, namely Kv7.2 (KCNQ2), Kv7.3 (KCNQ3), and Kv7.5 (KCNQ5); we review the phenotypic spectrum of Kv7-related epileptic channelopathies, the different genetic and pathogenetic mechanisms, and the emerging genotype-phenotype correlations which may prove crucial for prognostic predictions, disease management, parental counseling, and individually tailored therapeutic attempts.

中文翻译：

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由神经元Kv7（KCNQ）通道功能障碍引起的癫痫性通道病。

癫痫发作是新生儿期最常见的神经系统表现，估计每1000例活产发生率1.8-3.5。长时间或难治的癫痫发作对实验动物的认知和脑功能有不利影响，并与不良的长期神经发育后遗症和人类新生儿后癫痫的风险增加有关。发育中的大脑特别容易受到癫痫病的潜在严重影响，癫痫病尤其是在药物难以治疗时，经常会导致发育性和癫痫性脑病（DEE）并伴有发育性停滞或消退。DEE可以主要归因于遗传原因。考虑到钾（K +）电流在不同的亚细胞定位，生物物理特性，调节，以及在调节神经元内在电特性及其对突触输入的反应性方面的药理学特征，过去二十年来的遗传研究已经确定了几个K +通道基因在DEE中起很大作用，这一点不足为奇。在本文中，我们回顾了影响Kv7家族三个成员的遗传确定的癫痫性通道病，即Kv7.2（KCNQ2），Kv7.3（KCNQ3）和Kv7.5（KCNQ5）；我们回顾了Kv7相关的癫痫性通道病的表型谱，不同的遗传和致病机制以及新兴的基因型-表型相关性，这些事实可能对预后预测，疾病管理，父母咨询和个体定制的治疗尝试至关重要。