Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Pediatr Neurol. 2012 Feb;46(2):101-5. doi: 10.1016/j.pediatrneurol.2011.11.007.
Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies. We sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations. Six children were identified. One manifested a deletion in exons 10-15 of the CDKL5 gene, another manifested a single base-pair duplication in exon 3, and the rest manifested base-pair exchanges. The mean age of seizure onset was 1.8 months (range, 1-3 months). Although the majority (4/6, 67%) presented with partial-onset seizures, all children developed infantile spasms. All children demonstrated developmental delay and visual impairment. Although such mutations are X-linked, two children were boys. They did not present with more severe phenotypes than their female counterparts. Despite trials of antiepileptic drugs (mean, 5; range, 3-7), steroids/adrenocorticotropic hormone (4/6; 67%), and the ketogenic diet (6/6; 100%), all children manifested refractory seizures at last follow-up. Although no treatment eliminated seizures, topiramate, vigabatrin, and the ketogenic diet were most helpful at reducing seizure frequency.
X 连锁周期蛋白依赖性激酶样 5（CDKL5）基因突变是早发性癫痫性脑病的重要原因。我们旨在确定 CDKL5 基因突变继发癫痫的历史、临床和预后特征。我们对我院患有癫痫和 CDKL5 基因突变的儿童进行了回顾性图表审查。共发现 6 名儿童。1 名儿童表现为 CDKL5 基因外显子 10-15 缺失，另 1 名儿童表现为外显子 3 中单个碱基对重复，其余儿童表现为碱基对交换。发病年龄平均为 1.8 个月（范围，1-3 个月）。尽管大多数（4/6，67%）表现为部分发作性癫痫，但所有儿童均发展为婴儿痉挛症。所有儿童均表现为发育迟缓及视力障碍。尽管这种突变是 X 连锁的，但有 2 名儿童是男孩。他们的表型并不比女性更严重。尽管尝试了抗癫痫药物（平均 5 种；范围 3-7 种）、类固醇/促肾上腺皮质激素（4/6；67%）和生酮饮食（6/6；100%），但所有儿童在最后一次随访时仍表现为难治性癫痫。尽管没有治疗可以消除癫痫发作，但托吡酯、氨己烯酸和生酮饮食在降低癫痫发作频率方面最有帮助。
