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BECTS 中的 KCNQ2 异常:良性婴儿癫痫伴中央颞区棘波,继发于 KCNQ2 突变的良性新生儿癫痫。

KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.

机构信息

Department of Pediatrics, Fukuoka University, Fukuoka, Japan.

出版信息

Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10.

Abstract

The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.

摘要

良性儿童期中央颞区棘波灶癫痫(BECTS)的分子发病机制尚不清楚,而 KCNQ2 和 KCNQ3 基因突变已被确定为良性家族性新生儿惊厥的原因。我们在此报告一例良性新生儿惊厥后继发 BECTS 的女孩,其 KCNQ2 基因突变。该病例可能为理解 BECTS 的分子发病机制提供线索。

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