Chebanenko N V, Zykov V P, Komarova I B, Vergizova A A, Egozheva A A
Russian Medical Academy of Continuous Professional Education, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(3):121-126. doi: 10.17116/jnevro2021121031121.
A clinical case of a genetically confirmed diagnosis of alternating hemiplegia associated with epilepsy is presented. The combination of two types of seizures in a child made it difficult to make a diagnosis. The result of video-EEG monitoring made it possible to understand that a child showed both epileptic seizures and non-epileptic seizures simultaneously with different periodicities. The mutation in the ATP1A3 gene was verified with genome-wide sequencing and targeted therapy was prescribed in a timely manner. As a result, both types of seizures stopped after treatment.
本文介绍了一例经基因确诊的交替性偏瘫伴癫痫的临床病例。患儿出现两种类型的发作,这使得诊断变得困难。视频脑电图监测结果表明,患儿同时出现了癫痫发作和非癫痫发作,且发作周期不同。通过全基因组测序验证了ATP1A3基因突变,并及时给予了靶向治疗。结果,治疗后两种类型的发作均停止。