Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
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DOI：
10.1016/j.ejpn.2011.11.004
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发表时间：
2012-07-01
影响因子：
3.1
通讯作者：
Lerman-Sagie, Tally
中科院分区：
文献类型：
--
作者：
Blumkin, Lubov;Suls, Arvid;Lerman-Sagie, Tally
钾通道基因 KCNQ2 的突变通常会导致良性家族性新生儿癫痫。这是一种常染色体显性遗传疾病，其特征是在出生后的第一天发生丛集性癫痫发作。大多数患者在12月龄时精神运动发育正常，癫痫发作自发缓解。自1964年Rett和Teubel报道第一个家系以及Zimprich等人鉴定该家系中的KCNQ2基因突变以来。 2006 年，人们认识到表型变异包括：癫痫发作较晚、孤立性肌颤或伴有癫痫发作、神经功能缺损和智力低下。我们报告了一对母亲和儿子患有家族性新生儿癫痫的非典型表现。母亲患有持续性癫痫症，智力低下。儿子在新生儿期出现了严重的运动障碍，临床上与多灶性肌阵挛相符，仅对卡马西平有反应。他还患有共济失调和精神运动发育迟缓。肌电图显示不同肌肉群自发出现重复性正常运动电位。遗传分析发现孩子和他母亲的 KCNQ2 存在杂合错义突变。结论：KCNQ2 突变可表现为新生儿发病的多灶性肌阵挛样运动障碍。 (C) 2011 年欧洲小儿神经病学协会。由爱思唯尔有限公司出版。保留所有权利。
Mutations in the potassium channel gene KCNQ2, usually cause benign familial neonatal epilepsy. This is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have normal psychomotor development and spontaneous remission of seizures by 12 months of age.Since Rett and Teubel reported the first family in 1964 and the identification of KCNQ2 gene mutations in this family by Zimprich et al. in 2006, phenotypic variability has been recognized including: later onset of seizures, myokymia in isolation or accompanied by seizures, neurological deficit and mental retardation.We report a mother and son with an atypical presentation of familial neonatal epilepsy. The mother has persistent epilepsy and subnormal intelligence. The son developed a severe dyskinesia clinically compatible with multifocal myoclonus in the neonatal period that only responded to carbamazepine. He also has ataxia and delayed psychomotor development. EMG revealed a spontaneous occurrence of repetitive normal motor potentials in different muscle groups. Genetic analysis identified a heterozygous missense mutation in KCNQ2 in the child and his mother. Conclusion: KCNQ2 mutations can present with a neonatal onset multifocal myoclonus-like dyskinesia. (C) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.