PDF(Pubmed)
Abstract：
If the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene, which encodes Nav1.1 protein, undergoes pathological mutation, it results in a wide range of epileptic syndrome, including febrile seizure, genetic epilepsy with febrile seizure plus (GEFS+), and developmental and epileptic encephalopathy (DEE), including Dravet syndrome. We present the case of a five-and-a-half-month-old boy with SCN1A gene-related epileptic seizures, starting as focal seizures and progressing to generalized tonic-clonic seizures. Despite treating the seizures with multiple antiepileptic drugs, including phenytoin, sodium valproate, levetiracetam, perampanel, and clobazam, it was very difficult to control the seizures, and genetic testing was suggested. The SCN1A mutation leads to either loss of function, including GEFS+ and Dravet syndrome, or gain of function, including familial hemiplegic migraine type 3. The case emphasizes the importance of genetic testing in refractory epilepsy management to provide medical strategies for the diagnosis. It focuses on the difficulties faced in diagnostic and treatment strategies for the management of SCN1A-related epilepsy. It emphasizes the importance of monitoring and personalized treatment strategies to reduce the incidence of refractory epilepsy.
摘要：
如果钠电压门控通道α亚基1（SCN1A）基因，编码Nav1.1蛋白，经历病理突变，它会导致广泛的癫痫综合征，包括高热性癫痫,遗传性癫痫伴高热惊厥（GEFS+），和发育性和癫痫性脑病（DEE），包括Dravet综合征.我们介绍了一个五个半月大的男孩，患有SCN1A基因相关的癫痫发作，从局灶性癫痫发作开始，发展为全身性强直阵挛性癫痫发作。尽管用多种抗癫痫药物治疗癫痫发作，包括苯妥英,丙戊酸钠，左乙拉西坦,Perampanel,还有Cobazam,控制癫痫发作非常困难，并建议进行基因检测。SCN1A突变导致功能丧失,包括GEFS+和Dravet综合征,或获得功能，包括家族性偏瘫偏头痛3型。该病例强调了基因检测在难治性癫痫治疗中的重要性，为诊断提供了医学策略。它着重于SCN1A相关癫痫的诊断和治疗策略面临的困难。强调监测和个性化治疗策略对降低难治性癫痫发病率的重要性。
