原钙黏蛋白19基因突变相关癫痫的临床特点分析

段远辉; 曹洁

doi:10.7619/jcmp.20200657

原钙黏蛋白19基因突变相关癫痫的临床特点分析

段远辉,
曹洁

Analysis of clinical characteristics of procadherin 19 gene mutation associated epilepsy

摘要

摘要:
目的分析原钙黏蛋白19(PCDH19)基因突变所致癫痫的临床特点及其预后。
方法回顾分析2例PCDH19基因突变所致癫痫患儿的临床资料，并结合相关文献分析其临床特点。
结果 2例患儿均为女性，均语言发育迟缓，均不发热。抗癫痫药物对2例患儿效果较好。基因测序提示2例患儿的PCDH19基因为新发突变。
结论 PCDH19基因突变可来源于父母遗传以及新发突变，其所致癫痫起病常在婴儿期，多为女性。青春期后患者癫痫发作频率降低，但其智力无明显改善。

Abstract:
Objective To analyze the clinical features and prognosis of epilepsy caused by protocadherin 19 (PCDH19) gene mutation.
Methods The clinical data of two children with epilepsy caused by PCDH19 gene mutation was retrospectively analyzed, and their clinical characteristics were analyzed in according to relevant literatures and clinical data in combination.
Results Both of the two children were female, with retarded language development and no fever. Antiepileptic drugs were effective of two children. Gene sequencing indicated that PCDH19 gene was a novel mutation in two children.
Conclusion PCDH19 gene mutations can be inherited from parents or novel mutations, and the onset of epilepsy caused by PCDH19 is usually in infancy, mostly in female. After puberty, the frequency of seizures decreas in patients, but no significant improvement in their intelligence is found.

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