KCNMA1基因突变致癫痫三例

Three cases of epilepsy caused by Kcnma1 gene mutation

目的探讨KCNMA1基因不同位点突变致癫痫及阵发性非运动源性运动障碍的临床特点。方法分析2017年10月-2019年2月河北省儿童医院神经内科收治的3例KCNMA1基因不同位点突变致癫痫患儿,进行临床分析。结果本研究收集3例KCNMA1基因突变患儿,均为男童,基因位点均未报到,基因位点为复合杂合突变,先证者症状均为癫痫,无阵发性非运动源性运动障碍表现。例3患儿母亲幼时有PNKD病史。例1患儿2月龄起病,发作形式为强直发作、不典型失神发作,基因型c.2311-3C>T(Splicing),为新生突变,使用丙戊酸后发作控制;例2患儿8月龄起病,发作形式为局灶性强直发作,基因型c.422G>A(p.S141N),为新生突变,使用左乙拉西坦后发作减少,加用托吡酯后发作停止;例3患儿6月龄起病,发作形式为强直发作,基因型c.2399C>A(p.S800X),遗传自母亲,使用左乙拉西坦后发作停止。结论本组病例提示KCNMA1基因应作为婴幼儿期癫痫及智力、运动发育落后症状的候选筛查基因之一。

Objective To investigate the clinical characteristics of epilepsy and paroxysmal non-motor dyskinesia caused by mutations at different loci of KCNMA1 gene.Methods Three children with epilepsy caused by mutations at different loci of KCNMA1 gene were analyzed in the neurology department of Hebei children’s hospital from October 2017 to February 2019.Results A total of 3 children with KCNMA1 gene mutation were collected.All the three cases were boys with unreported complex heterozygous mutations;all the proband showed epilepsy without paroxysmal nonkinesigenic dyskinesia(PNKD);the mother of the 3 cases had a history of PNKD when she was young.Case 1 was 2 months old,with onset form of tonic and atypical absence,genotype c.2311-3c>T(Splicing),which was a newborn mutation,and was controlled by Valproic acid sodium after onset.Case 2 was 8 months old with focal tonic,genotype c.422G>A(p.S141N),which was A new mutation.The onset was reduced after the use of Levetiracetam,and stopped after the use of topiramate.Case 3 was 6 months old with onset form of tonic seizures,genotype c.2399C>A(p.S800X),inherited from the mother,and the onset stopped after the use of Levetiracetam.Conclusion This group of cases suggest that KCNMA1 gene should be used as one of the candidate screening genes for epilepsy and symptoms of mental and motor retardation in infants.