Genetic forms of epilepsies and other paroxysmal disorders.
Genetic forms of epilepsies and other paroxysmal disorders.
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DOI：
10.1055/s-0034-1386765
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发表时间：
2014-07
影响因子：
2.7
通讯作者：
Pearl PL
中科院分区：
文献类型：
--
作者：
Olson HE;Poduri A;Pearl PL
遗传机制解释了许多形式的癫痫和其他阵发性疾病的病理生理学，如儿童交替性偏瘫、家族性偏瘫性偏头痛和阵发性运动障碍。癫痫是明确定义的遗传综合征的关键特征，包括多发性硬化综合征、Rett综合征、Angelman综合征等。越来越多的单基因病因或易感因素与几种癫痫综合征相关，包括早发性癫痫性脑病、良性新生儿/婴儿癫痫发作、进行性肌阵挛性癫痫、遗传性全身性和良性局灶性癫痫、癫痫性失语症和家族性局灶性癫痫。分子机制是多种多样的，单个基因可以与广泛的表型相关。其他特征，如畸形，头部大小，运动障碍和家族史可能提供遗传诊断的线索。基因检测可能会影响医疗保健和咨询。我们讨论了癫痫和其他阵发性疾病的遗传机制，遗传检测的工具和适应症，已知的基因型-表型关联，遗传咨询的重要性，并展望了癫痫遗传学的未来。
Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics.