PDF(Pubmed)
Abstract：
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4-5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient\'s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr.
摘要：
进行性肌阵挛性癫痫（PME）的特征是突出的肌阵挛性，全身性强直-阵挛性癫痫发作，很少有焦点，补品,或缺勤癫痫发作。KCNC1突变负责PME的特定临床表型,其已被定义为由于钾通道突变(MEAK)引起的肌阵挛性癫痫和共济失调。我们介绍了一名44岁的男性患者，其遗传证实为MEAK，该患者因其药理学难治性肌阵统和耐药性癫痫（DRE）而接受了丘脑底核/黑质（STN/SNr）深部脑刺激（DBS）。从4-5岁开始，病人一直患有故意震颤，后来肌阵挛性抽搐，涉及上肢的共济失调和行走困难恶化。首次双侧强直阵挛性癫痫发作（BTCS）发生在22岁。患者同意分期双侧植入放置在STN/SNr区域的DBS电极。随访时间超过24个月。通过统一肌阵鸣量表（UMRS）评估的肌阵挛性抽搐减少了近70％，并且完全废除了BTCS。患者的共济失调和构音障碍没有改善。基因检测的早期诊断可能会显着帮助为PME患者提供咨询，并能够采取针对STN/SNr的手术方法。
