PRRT2基因突变家系临床表型及治疗效果分析

Clinical phenotype and therapeutic effect of PRRT2 gene mutation families

目的总结PRRT2基因突变家系病例的临床表型,评估抗癫痫药疗效,为临床诊治提供依据。方法回顾性总结2018年11月至2021年2月我院收治的PRRT2基因突变4个家系受累成员的临床表型,并对其治疗效果进行分析。结果4个家系受累成员9例,在婴儿期表现为良性家族性婴儿癫痫(BFIE)而青少年期表现为发作性运动诱发性运动障碍(PKD)表型者3例;婴儿期BFIE表型者5例,其中3例目前尚在幼儿期是否出现PKD表型尚不能确定;仅有PKD表型者1例为成年女性。8例BFIE表型者,其中6例未治疗均在2岁内发作停止;2例首选左乙拉西坦未控制发作换用奥卡西平后症状缓解;4例PKD表型者,其中3例低剂量奥卡西平即可控制发作。结论PRRT2基因突变家系中最常见的临床表型为BFIE和PKD,部分受累者婴儿期出现BFIE表型,青少年期可能出现PKD表型。较低剂量的奥卡西平治疗有效,左乙拉西坦治疗效果差,甚至加重发作。

Objective family and analyze the treatment effect in order to provide evidence for the clinical diagnosis and treatment.MethodsClinical data of PRRT2-positive patients and their family members who received treatment in our hospital from November 2018 to February 2021 were selected and the therapeutic effect was analyzed.Results3 patients showed benign familial infantile epilepsy(BFIE)in infancy and paroxysmal kinesigenic dyskinesia(PKD)in adolescence.Four patients were diagnosed with BFIE in infancy,and among them,three are still in early childhood with uncertain PKD phenotype;one adult female patient was only diagnosed with PKD.Six patients with BFIE were not treated and improved within 2 years of age.The symptoms of the 2 patients could be relieved by low-dose of oxcarbazepine.The symptoms of the 3 patients with PKD could be relieved by low-dose of oxcarbazepine.Conclusions PKD.Some affected populations have BFIE phenotypes in infancy,and PKD phenotypes may appear in adolescence.Lower dosage of oxcarbazepine is effective in treatment,while levetiracetam has poor therapeutic effects and may even worsen the attack.