The clinical spectrum of female epilepsy patients with PCDH19 mutations   in a Chinese population

doi:10.1111/cge.12846

CORC > 北京大学 > 生命科学学院

	The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
	Liu, A. ; Xu, X. ; Yang, X. ; Jiang, Y. ; Yang, Z. ; Liu, X. ; Wu, Y. ; Wu, X. ; Wei, L. ; Zhang, Y.
刊名	CLINICAL GENETICS
	2017
关键词	clinical manifestation Dravet syndrome epilepsy females fever PCDH19 PROTOCADHERIN 19 MUTATIONS MENTAL-RETARDATION LIMITED EPILEPSY ONSET EPILEPSY DE-NOVO ENCEPHALOPATHY INHERITANCE FEVER
DOI	10.1111/cge.12846
英文摘要	Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) DS girls and 15 (15/29, 51.7%) girls with fever-sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5-18 months), seizures sensitive to fever, focal seizures or generalized tonic-clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers.; National Natural Science Foundation of China [81171221]; Peking University Clinical Cooperation '985' Project [PKU-2014-1-1]; Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases [Z141107004414036]; SCI(E); PubMed; ARTICLE; 1; 54-62; 91
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/493234]
专题	生命科学学院
推荐引用方式 GB/T 7714	Liu, A.,Xu, X.,Yang, X.,et al. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population[J]. CLINICAL GENETICS,2017.
APA	Liu, A..,Xu, X..,Yang, X..,Jiang, Y..,Yang, Z..,...&Zhang, Y..(2017).The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.CLINICAL GENETICS.
MLA	Liu, A.,et al."The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population".CLINICAL GENETICS (2017).