[CDKL5突变所致早发性癫痫性脑病]

[Early-onset epileptic encephalopathy caused by CDKL5 mutation].

作者信息

Hjalmgrim Helle, Hansen Lars Kjærsgaard, Ousager Lilian Bomme, Møller Rikke Steensbjerre

机构信息

Epilepsihotellet, Dianalund, Kolonivej 1, 4293 Dianalund.

出版信息

Ugeskr Laeger. 2014 Dec 15;176(25A).

PMID:25497626

Abstract

Two girls suffering from early-onset epileptic encephalopathy are described. Both girls had changes involving the gene CDKL5. They both had seizures in the first weeks of life and normal EEG interictally. Both developed infantile spasms and severe developmental defect. The epilepsy was difficult to treat.

摘要

本文描述了两名患有早发性癫痫性脑病的女孩。两名女孩均有涉及CDKL5基因的改变。她们在出生后的头几周均出现癫痫发作，发作间期脑电图正常。两人均发展为婴儿痉挛症和严重的发育缺陷。癫痫难以治疗。