标题：Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
作者：Yang, Li; Liu, Jing; Su, Quanping; Li, Yufen; Yang, Xiaofan; Xu, Liyun; Tong, Lili; Li, Baomin
作者机构：[Yang, Li; Liu, Jing; Yang, Xiaofan; Tong, Lili; Li, Baomin] Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peop 更多
通讯作者地址：[Li, BM]Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China.
来源：BRAIN AND BEHAVIOR
关键词：epilepsy; females; fever; later-onset; PCDH19
摘要：Background PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. Methods We screened 152 children with fever-sensitive epilepsy for gene detection. Their clinical information was followed up. Results We found eight PCDH19 point mutations (four novel and four reported) and one whole gene deletion in 10 female probands (seven sporadic cases and three family cases) who also had cluster seizures. The common clinical features of 16 patients in 10 families included fever-sensitive and cluster seizures, mainly focal or tonic-clonic seizures, and absence of status epilepticus, normal intelligence, or mild-to-moderate cognitive impairment, the onset age ranges from 5 months to 20 years. Only four patients had multiple or focal transient discharges in interictal EEG. Focal seizures originating in the frontal region were recorded in four patients, two from the parietal region, and one from the occipital region. Conclusion PCDH19 mutation can be inherited or de novo. The clinical spectrum of PCDH19 mutation includes PCDH19 Girls Clustering Epilepsy with or without mental retardation, psychosis, and asymptomatic male. The onset age of PCDH19 Girls Clustering Epilepsy can range from infancy to adulthood. Sisters in the same family may be sensitive to the same antiepileptic drugs. And our report expands the mutation spectrum of PCDH19 Girls Clustering Epilepsy.