PDF(Pubmed)
Abstract：
Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of DEE with a 2q24.3 duplication has not been described. A 20-year-old female developed epileptic encephalopathy in early infancy that was resistant to various antiseizure medications. Her seizures disappeared after starting vitamin B6 therapy. Therefore, her epilepsy was considered pyridoxine-dependent epilepsy. At 16 years old, whole exome sequencing revealed a 2q24.3 microduplication including SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A. Quantitative PCR detected an increased copy number of 1.3 Mb on 2q24.3 involving these genes, but no gene mutation accounting for pyridoxine-dependent epilepsy. Considering that with this duplication she was reported to be seizure-free after infancy, she was able to be off antiseizure medications including vitamin B6. Our case involvingdrug-resistant epilepsy in early infancy had no recurrent seizures during long-term follow up. Detecting CNVs using whole exome sequencing data was useful to identify a 2q24.3 duplication unassociated with pyridoxine-dependent epilepsy, leading to cessation of unnecessary medications.
摘要：
拷贝数变异（CNV）与发育性和癫痫性脑病（DEE）有关。2q24.3区域包括电压门控钠通道（SCN）的基因簇，该区域中的CNV引起DEE。然而,没有描述具有2q24.3重复的DEE的长期过程。一名20岁的女性在婴儿早期出现了癫痫性脑病，对各种抗癫痫药物具有抗药性。开始维生素B6治疗后，她的癫痫发作消失了。因此,她的癫痫被认为是吡哆醇依赖性癫痫.16岁时,整个外显子组测序显示2q24.3微重复，包括SCN1A，SCN2A,SCN3A,SCN7A,SCN9A定量PCR在涉及这些基因的2q24.3上检测到1.3Mb的拷贝数增加，但没有基因突变解释吡哆醇依赖性癫痫。考虑到这种重复，据报道她在婴儿期后没有癫痫发作，她可以停用包括维生素B6在内的抗癫痫药物。我们在婴儿期早期涉及耐药性癫痫的病例在长期随访中没有反复发作。使用全外显子组测序数据检测CNVs有助于识别与吡哆醇依赖性癫痫无关的2q24.3重复，停止不必要的药物治疗。
