FGF12基因突变致早发性癫痫性脑病1例

对2020年2月在山东大学齐鲁儿童医院住院治疗的1例早发性癫痫性脑病患儿进行回顾性分析。患儿，女，4月龄时因"反复抽搐发作4个月、喂养困难1个月"入院。患儿出生1 d起病，发作类型为强直发作，发育严重落后，脑电图示多灶放电，后转为高度失律，头颅影像学阴性，3月龄时出现喂养困难。基因检测结果示 FGF12基因新...

Case report of early-onset epileptic encephalopathy caused by FGF12 gene mutation

The data of a child with early-onset epileptic encephalopathy in Qilu Children′s Hospital of Shandong University in February 2020 were analyzed retrospectively.The child was a 4-month-old girl,who was admitted to the hospital because of"repeated convulsions for 4 months and feeding difficulty for 1 month"at the age of 4 months.The patient suffered from epilepsy 1 day after birth,and the epilepsy type was tonic seizures.Severe developmental retardation was observed in the patient.Electroencephalogram showed multifocal discharge,which then turned to hypsarrhythmia.The cranial imaging was negative.Feeding difficulty occurred at the age of 3 months.The genetic testing revealed a de novo heterozygous missense mutation in the FGF12 gene(Arg114His).Various antiepileptic drugs and ketogenic diet were ineffective.There was no attack in 2 months after adding Phenytoin.The child could eat on her own after seizure control,but there was no progress in intellectual and motor development.Mutations in the FGF12 gene lead to poor prognosis of early-onset epileptic encephalopathy,and the seizures are difficult to control.Sodium ion channel blockers such as Phenytoin should be used as soon as possible.