Fulton Stephen P, Van Poppel Kate, McGregor Amy L, Mudigoudar Basanagoud, Wheless James W
1 Division of Neurology, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, TN, USA.
2 Carolinas Pediatric Neurology Care, Concord, NC, USA.
J Child Neurol. 2017 Apr;32(5):494-498. doi: 10.1177/0883073816687221. Epub 2017 Jan 12.
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy. A retrospective review was conducted of patients with deleterious SCN1A mutations who had vagus nerve stimulation placement for treatment of their intractable epilepsy. These children had onset of their epilepsy between 3 and 29 months of age. Seizure control was assessed 6 months after implantation. Twenty patients are included in the study, with 12 implanted at our institution. Nine of the 12 patients implanted at our institution, who had confirmed pre- and post-implantation seizure assessments, showed improvement in seizure control, which was defined as >50% reduction in generalized tonic-clonic seizures, and 4 of those 12 reported improvement in cognitive or speech development. Seven of the 8 patients not implanted at our institution reported subjective benefit, with 4 relating "marked improvement" or seizure freedom. Vagus nerve stimulation appears to impart a benefit to children with deleterious SCN1A gene abnormalities associated with intractable epilepsy.
SCN1A基因突变会引发一系列癫痫综合征。在这一系列综合征中，有两种处于严重程度的末端。典型的严重形式，即Dravet综合征，是一种儿童期癫痫性脑病，会导致认知能力下降以及难治性癫痫发作。婴儿严重肌阵挛癫痫-临界型（SMEIB）是一个术语，用于涵盖与Dravet综合征严重程度相似，但缺乏婴儿严重肌阵挛癫痫典型单一特征的病例。迷走神经刺激是一种用于治疗难治性癫痫的非药物疗法。对因难治性癫痫而接受迷走神经刺激植入治疗的携带有害SCN1A基因突变的患者进行了一项回顾性研究。这些儿童的癫痫发作始于3至29个月龄。在植入后6个月评估癫痫控制情况。该研究纳入了20名患者，其中12名在我们机构植入。在我们机构植入的12名患者中，有9名在植入前后均进行了癫痫发作评估，其癫痫控制情况有所改善，定义为全身强直阵挛性发作减少>50%，其中12名患者中有4名报告认知或语言发育有所改善。在未在我们机构植入的8名患者中，有7名报告有主观受益，其中4名称“明显改善”或癫痫发作得到控制。迷走神经刺激似乎对患有与难治性癫痫相关的有害SCN1A基因异常的儿童有益。
