中国儿科患者ATP1A2变异的临床谱

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Lifang Dai , Changhong Ding , Xiaojuan Tian , Ming Liu , Yuping Ma , Chunhong Chen , Xiaotun Ren , Hua Li
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引用次数: 0

摘要

目的评估中国偏瘫、偏头痛、脑病或癫痫儿童ATP1A2变异的临床谱。方法采用下一代测序方法对16名儿童(12名男性和4名女性)进行鉴定,其中包括10名先前已发表病例的ATP1A2变异患者。结果15例FHM2(家族性2型偏瘫偏头痛)患者,其中3例为AHC(儿童交替偏瘫),1例为耐药局灶性癫痫。13名患者患有发育迟缓。发热性癫痫发作发生在5个月至2年5个月之间(中位数1年3个月),早于HM(偏瘫性偏头痛)发作,HM发生在1年5个月中至13年之间(中位数3年11个月)。意识障碍首先消退,在40小时至9天(中位数4.5天);偏瘫和失语症缓解缓慢,前者需要30分钟至6个月(中位数17.5天),后者需要24小时至1年以上(中位数14.5天)。颅脑MRI显示大脑半球水肿,主要为左半球急性发作。所有13名FHM2患者在30分钟到6个月内恢复到基线。15名患者在基线和随访时间点之间的总发作次数在1至7次之间(中位数为2次)。我们报告了12个错义变体,包括一个新的变体ATP1A2变体p.G855E。结论中国ATP1A2相关疾病患者的已知基因型和表型谱进一步扩展。反复高热惊厥和DD合并阵发性偏瘫和脑病应引起临床对FHM2的怀疑。避免触发并因此预防发作可能是FHM2最有效的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients

Purpose

To evaluate the clinical spectrum associated with ATP1A2 variants in Chinese children with hemiplegia, migraines, encephalopathy or seizures.

Methods

Sixteen children (12 males and 4 females), including ten patients with ATP1A2 variants whose cases had been published previously, were identified using next-generation sequencing.

Results

Fifteen patients had FHM2 (familial hemiplegic migraine type 2), including three who had AHC (alternating hemiplegia of childhood) and one who had drug-resistant focal epilepsy. Thirteen patients had DD (developmental delay). The onset of febrile seizures, which occurred between 5 months and 2 years 5 months (median 1 year 3 months) was earlier than the onset of HM (hemiplegic migraine), which occurred between 1 year 5 months and 13 years (median 3 years 11 months). Disturbance of consciousness subsided first, at 40 h to 9 days (median 4.5 days); hemiplegia and aphasia were resolved slowly, taking 30 min to 6 months (median 17.5 days) for the former and 24 h to over 1 year (median 14.5 days) for the latter. Cranial MRI showed edema in the cerebral hemispheres, mainly the left hemisphereacute attacks. All thirteen FHM2 patients recovered to baseline in 30 min to 6 months. Fifteen patients had between 1 and 7 (median 2) total attacks between the baseline and follow-up timepoints. We report twelve missense variants, including a novel variant ATP1A2 variant, p.G855E.

Conclusions

The known genotypic and phenotypic spectra of Chinese patients with ATP1A2-related disorders were further expanded. Recurrent febrile seizures and DD combined with paroxysmal hemiplegia and encephalopathy should raise the clinical suspicion of FHM2. The avoidance of triggers and thus the prevention of attacks may be the most effective therapy for FHM2.

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来源期刊
Brain & Development
Brain & Development 医学-临床神经学
CiteScore
3.60
自引率
0.00%
发文量
153
审稿时长
50 days
期刊介绍: Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.
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