Genetic neurological channelopathies: molecular genetics and clinical phenotypes.
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.
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DOI：
10.1136/jnnp-2015-311233
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发表时间：
2016-01
期刊：
影响因子：
--
通讯作者：
Hanna MG
中科院分区：
文献类型：
--
作者：
Spillane J;Kullmann DM;Hanna MG
近年来积累的证据表明，遗传性神经通道病可导致许多不同的神经系统疾病。与脑、脊髓、周围神经或肌肉相关的表现意味着通道病几乎可以影响神经病学实践的任何领域。通常，神经通道病以常染色体显性遗传方式遗传，并引起神经功能的阵发性紊乱，尽管功能损害可随时间而固定。这些疾病是个别罕见的，但准确的诊断是重要的，因为它有遗传咨询和治疗的影响。此外，对不太常见的离子通道突变相关疾病的研究增加了我们对与常见神经系统疾病（如偏头痛和癫痫）相关的病理机制的理解。在这里，我们回顾遗传性神经通道病的分子遗传学和临床特征。
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies.