University of California, San Diego, San Diego, California, USA.
Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Epilepsia. 2024 Aug;65(8):2341-2353. doi: 10.1111/epi.18029. Epub 2024 May 25.
This study was undertaken to estimate incidence of rare epilepsies and compare with literature.
We used electronic health record text search to identify children with 28 rare epilepsies in New York City (2010-2014). We estimated cumulative incidence and compared with literature.
Eight of 28 rare epilepsies had five or more prior estimates, and our measurements were within the published range for all. The most common were infantile epileptic spasms syndrome (1 in 2920 live births), Lennox-Gastaut syndrome (1 in 9690), and seizures associated with tuberous sclerosis complex (1 in 14 300). Fifteen of 28 had fewer than five prior estimates, and of these, we provided additional estimates for early infantile developmental and epileptic encephalopathy (1 in 32 700), epilepsy with myoclonic-atonic seizures (1 in 34 100), Sturge-Weber syndrome plus seizures/epilepsy (1 in 40 900), epilepsy in infancy with migrating focal seizures (1 in 54 500), Aicardi syndrome plus seizures/epilepsy (1 in 71 600), hypothalamic hamartoma with seizures (1 in 225 000), and Rasmussen syndrome (1 in 450 000). Five of 28 rare epilepsies had no prior estimates, and of these, we provided a new estimate for developmental/epileptic encephalopathy with spike-and-wave activation in sleep and/or continuous spikes and waves during sleep (1 in 34 100). Data were limited for the remaining 12 rare epilepsies, which were all genetic epilepsies, including PCDH19, CDKL5, Alpers disease, SCN8A, KCNQ2, SCN2A, GLUT1 deficiency, Phelan-McDermid syndrome, myoclonic epilepsy with ragged-red fibers, dup15q syndrome, ring chromosome 14, and ring chromosome 20.
We estimated the incidence of rare epilepsies using population-based electronic health record data and literature review. More research is needed to better estimate the incidence of genetic epilepsies with nonspecific clinical features. Electronic health records may be a valuable data source for studying rare epilepsies and other rare diseases, particularly as genetic testing becomes more widely adopted.
本研究旨在评估罕见癫痫的发病率，并与文献进行比较。
我们使用电子健康记录文本搜索来确定纽约市 28 种罕见癫痫（2010-2014 年）患儿。我们估计了累积发病率，并与文献进行了比较。
28 种罕见癫痫中有 8 种有 5 个或更多的既往估计值，我们的测量值在所有已发表的范围内。最常见的是婴儿癫痫性痉挛综合征（每 2920 例活产儿中有 1 例）、Lennox-Gastaut 综合征（每 9690 例中有 1 例）和与结节性硬化症相关的癫痫发作（每 14300 例中有 1 例）。28 种中有 15 种有少于 5 个既往估计值，其中我们为早期婴儿发育性和癫痫性脑病（每 32700 例中有 1 例）、伴有肌阵挛-失张力发作的癫痫（每 34100 例中有 1 例）、Sturge-Weber 综合征伴癫痫/癫痫（每 40900 例中有 1 例）、婴儿期伴移行局灶性癫痫发作的癫痫（每 54500 例中有 1 例）、Aicardi 综合征伴癫痫/癫痫（每 71600 例中有 1 例）、下丘脑错构瘤伴癫痫（每 225000 例中有 1 例）和 Rasmussen 综合征（每 450000 例中有 1 例）提供了额外的估计值。28 种罕见癫痫中有 5 种没有既往估计值，其中我们为伴有睡眠中棘波和/或睡眠中连续棘波的发育/癫痫性脑病（每 34100 例中有 1 例）提供了新的估计值。其余 12 种罕见癫痫的数据有限，均为遗传性癫痫，包括 PCDH19、CDKL5、Alpers 病、SCN8A、KCNQ2、SCN2A、GLUT1 缺乏症、Phelan-McDermid 综合征、伴锯齿状红纤维的肌阵挛性癫痫、dup15q 综合征、环状染色体 14 和环状染色体 20。
我们使用基于人群的电子健康记录数据和文献回顾来估计罕见癫痫的发病率。需要进一步研究以更好地估计具有非特异性临床特征的遗传性癫痫的发病率。电子健康记录可能是研究罕见癫痫和其他罕见疾病的有价值的数据来源，特别是随着基因检测的广泛应用。
