"Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY"

作者全名："Chen, Congjie; Luo, Yuanyuan; Hou, Xueqing; Li, Tingsong"

作者地址："[Chen, Congjie; Hou, Xueqing; Li, Tingsong] Childrens Hosp Chongqing Med Univ CHCMU, Dept Rehabil, Chongqing, Peoples R China; [Chen, Congjie; Luo, Yuanyuan; Hou, Xueqing; Li, Tingsong] Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China; [Chen, Congjie; Luo, Yuanyuan; Hou, Xueqing; Li, Tingsong] Natl Clin Res Ctr Child Hlth & Disorders Chongqing, Chongqing, Peoples R China; [Chen, Congjie; Luo, Yuanyuan; Hou, Xueqing; Li, Tingsong] Int Sci & Technol Cooperat Base Child Dev & Crit D, Chongqing, Peoples R China; [Chen, Congjie; Luo, Yuanyuan; Hou, Xueqing; Li, Tingsong] Chongqing Key Lab Pediat, Chongqing, Peoples R China; [Luo, Yuanyuan] Childrens Hosp Chongqing Med Univ CHCMU, Dept Neurol, Chongqing, Peoples R China; [Hou, Xueqing; Li, Tingsong] Dept Rehabil, Bldg 8,Zhongshan Er Rd 136, Chongqing 400014, Peoples R China"

通信作者："Hou, XQ; Li, TS (通讯作者)，Dept Rehabil, Bldg 8,Zhongshan Er Rd 136, Chongqing 400014, Peoples R China."

来源：BRAIN AND BEHAVIOR

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:001034399000001

JCR分区：Q2

影响因子：2.6

年份：2023

卷号：　

期号：　

开始页：　

结束页：　

文献类型：Article; Early Access

关键词：children; epilepsy; Klinefelter's syndrome; 47; XXY karyotype

摘要："ObjectiveThe phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder. As a result, the clinical characteristics of epilepsy in these patients remain poorly understood. MethodsClinical data and the evolution of epilepsy in a boy diagnosed with chromosomal aberration 47, XXY were collected and analyzed. Furthermore, a systematic literature review was conducted to examine the relationship between chromosomal aberration 47, XXY and epilepsy in children. ResultsWe identified a novel phenotype associated with the chromosomal anomaly 47, XXY in a 2-year-2-month-old boy who presented with self-limited epilepsy with autonomic seizures at onset, followed by developmental and/or epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS), which was responsive to corticosteroid treatment. Including the present case, we analyzed 21 cases of children diagnosed with epilepsy due to the presence of the 47, XXY chromosomal anomaly. The most common types of epilepsy were focal combined generalized epilepsy (n = 9), epileptic spasms (n = 6), and generalized epilepsy (n = 4). There were six cases of infantile epileptic spasm syndrome (IESS) (n = 5) and developmental and epileptic encephalopathy (n = 1), one case of Lennox-Gastaut syndrome, and one case of D/EE-SWAS. Apart from corticosteroids in IESS, 15 antiseizure medications (ASMs) were prescribed to eight children in this cohort, with valproate (n = 5) being the most frequently used. ConclusionsThe epilepsy types and syndromes associated with the chromosomal anomaly 47, XXY demonstrated considerable heterogeneity. Among the observed phenotypes, IESS and focal epilepsy, which displayed partial responsiveness to multiple ASMs, were the most prevalent."

基金机构：Youth Innovation in Future Medicine [W0031]

基金资助正文："CQMU Program for Youth Innovation in Future Medicine, Grant/AwardNumber:W0031."