中国儿童具有局灶性起始的婴儿游走性癫痫的临床和遗传特征。

Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children.

机构信息

Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.

出版信息

Epilepsy Res. 2021 Aug;174:106669. doi: 10.1016/j.eplepsyres.2021.106669. Epub 2021 May 12.

DOI:10.1016/j.eplepsyres.2021.106669

PMID:34020146

Abstract

OBJECTIVE

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare and severe developmental epileptic encephalopathy. The aim of this study was to improve our understanding of EIMFS by using phenotype-genotype correlation.

METHODS

We recruited, performed clinical genetic testing, and summarized the clinical features and genetic characteristics in five patients with EIMFS in China.

RESULTS

The five recruited patients included 2 males and 3 females. The median age of seizure onset was 2 months (range, day 3 to 3 months). All patients exhibited the characteristics of clinically migrating focal motor (tonic or clonic) seizures. Typical migrating ictal electrical patterns were found in 1 patient; the remaining four patients presented with overlapping seizures with different areas of ictal onset in differing hemispheres. All the patients had the associated variants, including KCNT1, SCN1A, SCN2A, TBC1D24 and ALG1. All patients received two or more antiseizure medications, and 1 patient became seizure-free, 1 reported >75 % seizure reduction, 2 reported >50 % seizure reduction, and 1 patient showed no improvement. Varying degrees of psychomotor developmental delays were observed in all patients.

CONCLUSIONS

The course of EIMFS could be related to the type of gene variant present, and different genes may have specific clinical features. Larger cohorts are required to elucidate such potential phenotype-genotype correlations.

摘要

目的

婴儿期局灶性癫痫伴游走性发作（EIMFS）是一种罕见且严重的发育性癫痫性脑病。本研究旨在通过表型-基因型相关性来提高对 EIMFS 的认识。

方法

我们在中国招募了五名 EIMFS 患者，进行了临床基因检测，并总结了他们的临床特征和基因特征。

结果

招募的五名患者包括 2 名男性和 3 名女性。发病的中位年龄为 2 个月（范围为 3 天至 3 个月）。所有患者均表现出临床移行性局灶性运动（强直或阵挛）发作的特征。1 名患者出现典型移行性发作电模式；其余 4 名患者表现为不同半球起始部位不同的重叠性发作。所有患者均携带相关变异，包括 KCNT1、SCN1A、SCN2A、TBC1D24 和 ALG1。所有患者均接受了两种或更多种抗癫痫药物治疗，1 例患者无发作，1 例报告发作减少>75%，2 例报告发作减少>50%，1 例患者无改善。所有患者均存在不同程度的精神运动发育迟缓。