Hoffman-Zacharska Dorota, Górka-Skoczylas Paulina
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.
Dev Period Med. 2017;21(4):317-327. doi: 10.34763/devperiodmed.20172104.317327.
Epilepsy is common neurological condition affecting 0.8-1% of the human population. Since 80% of patients are under 20 years of age, it is mainly a disease of the developmental period. The causes of epilepsy are heterogeneous, but the disease has always been considered a genetic disorder, which no longer doubted. Epilepsy genetics has undergone a revolution since the discovery of the first gene responsible for epilepsy. This is mainly because of introduction of the next generation sequencing as research and diagnostic tool, and transition from studies of pedigrees with epilepsy to the analysis of cases of epileptic encephalopathies. In a short time more than 50 early infantile epileptic encephalopathies were recognized due to the causative genes. Whole exome or targeted panel sequencing has been used as a diagnostic tool with a diagnostic yield of about 30-40%. The "genetic diagnosis" that is obtained makes it possible to introduce targeted treatment in an increasing number of cases. Since epileptic encephalopaties are often regarded as the model disease for epilepsy, these therapeutic strategies can provide treatment for patients with common epilepsies.
癫痫是一种常见的神经系统疾病，影响着0.8%-1%的人群。由于80%的患者年龄在20岁以下，它主要是一种发育时期的疾病。癫痫的病因多种多样，但该疾病一直被认为是一种遗传疾病，这一点已毋庸置疑。自发现首个与癫痫相关的基因以来，癫痫遗传学经历了一场变革。这主要得益于将新一代测序技术作为研究和诊断工具，以及从对癫痫家系的研究转向对癫痫性脑病病例的分析。在短时间内，由于致病基因，超过50种早发性婴儿癫痫性脑病被识别出来。全外显子组或靶向基因panel测序已被用作诊断工具，诊断阳性率约为30%-40%。所获得的“基因诊断”使得在越来越多的病例中引入靶向治疗成为可能。由于癫痫性脑病常被视为癫痫的典型疾病，这些治疗策略可为普通癫痫患者提供治疗。
