IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
Yang, Xiaoling; Zhang, Yuehua; Xu, Xiaojing; Wang, Shuang; Yang, Zhixian; Wu, Ye; Liu, Xiaoyan; Wu, Xiru
关键词Benign familial infantile epilepsy Infantile convulsions with paroxysmal choreoathetosis Phenotype PRRT2 Mutation
刊名BMC NEUROLOGY
2013-12-26
DOI10.1186/1471-2377-13-209
13
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]KINESIGENIC DYSKINESIA ; HEMIPLEGIC MIGRAINE ; CLINICAL-FEATURES ; MILD GASTROENTERITIS ; GENE-MUTATIONS ; MAJOR CAUSE ; SEIZURES ; CLASSIFICATION ; CHILDREN ; TERMINOLOGY
英文摘要

Background: Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA.

Methods: Clinical data were collected from 22 families with BFIE and eight families with ICCA. PRRT2 mutations were screened using PCR and direct sequencing.

Results: Ninety-five family members were clinically affected in the 22 BFIE families. During follow-up, two probands had one seizure induced by diarrhea at the age of two years. Thirty-one family members were affected in the eight ICCA families, including 11 individuals with benign infantile epilepsy, nine with PKD, and 11 with benign infantile epilepsy followed by PKD. Two individuals in one ICCA family had PKD or ICCA co-existing with migraine. One affected member in another ICCA family had experienced a fever-induced seizure at 7 years old. PRRT2 mutations were detected in 13 of the 22 BFIE families. The mutation c.649_650insC (p.R217PfsX8) was found in nine families. The mutations c.649delC (p.R217EfsX12) and c.904_905insG (p.D302GfsX39) were identified in three families and one family, respectively. PRRT2 mutations were identified in all eight ICCA families, including c.649_650insC (p.R217PfsX8), c.649delC (p.R217EfsX12), c.514_517delTCTG (p.S172RfsX3) and c.1023A > T (X341C). c.1023A > T is a novel mutation predicted to elongate the C-terminus of the protein by 28 residues.

Conclusions: Our data demonstrated that PRRT2 is the major causative gene of BFIE and ICCA in Chinese families. Site c. 649 is a mutation hotspot: c.649_650insC is the most common mutation, and c.649delC is the second most common mutation in Chinese families with BFIE and ICCA. As far as we know, c.1023A > T is the first reported mutation in exon 4 of PRRT2. c.649delC was previously reported in PKD, ICCA and hemiplegic migraine families, but we further detected it in BFIE-only families. c.904_905insG was reported in an ICCA family, but we identified it in a BFIE family. c.514_517delTCTG was previously reported in a PKD family, but we identified it in an ICCA family. Migraine and febrile seizures plus could co-exist in ICCA families.

语种英语
WOS记录号WOS:000330062400001
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67537
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Yang, Xiaoling,Zhang, Yuehua,Xu, Xiaojing,et al. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis[J]. BMC NEUROLOGY,2013,13.
APA Yang, Xiaoling.,Zhang, Yuehua.,Xu, Xiaojing.,Wang, Shuang.,Yang, Zhixian.,...&Wu, Xiru.(2013).Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.BMC NEUROLOGY,13.
MLA Yang, Xiaoling,et al."Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis".BMC NEUROLOGY 13(2013).
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