伴有癫痫发作的歌舞伎综合征一例

A case of Kabuki syndrome with epileptic seizures

本文报道了一例主要表现为不明原因反复全面性癫痫发作的歌舞伎综合征患者,经基因检测发现KMT2D基因突变为患者的新生变异,变异位点国际上暂未见报道。本文旨在为原因不明的癫痫患者提供更多的诊治思路。

This study reports a case of Kabuki syndrome with unexplained recurrent generalized tonic-clonic seizures.By gene testing,the KMT2D gene mutation was found to be a new mutation of the patient,and the mutation site has not been reported in the world.The aim of the report is to provide more ideas for the diagnosis and treatment of epilepsy patients with unknown causes.