Population-Based Study of Rare Epilepsy Incidence in a US Urban Population

Details

• Alternative Title:
  Epilepsia
• Personal Author:
  Barbour, Kristen ; Tian, Niu ; Yozawitz, Elissa G. ; Wolf, Steven ; McGoldrick, Patricia E. ; Sands, Tristan T. ; Nelson, Aaron ; Basma, Natasha ; Grinspan, Zachary M.
• Description:
  Objective.
  
  This study was undertaken to estimate incidence of rare epilepsies and compare with literature.
  
  Methods.
  
  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.
  
  Results.
  
  Eight of 28 rare epilepsies had 5 or more prior estimates, and our measurements were within the published range for all. The most common were infantile spasms syndrome (1 in 2,920 live births), Lennox-Gastaut syndrome (1 in 9,690), and seizures associated with tuberous sclerosis complex (1 in 14,300). Sixteen of 28 had fewer than 5 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 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 was limited for the remaining 12 rare epilepsies that were all genetic epilepsies, including PCDH19, CDKL5, Alpers disease, SCN8A, KCNQ2, SCN2A, GLUT1 deficiency, Phelan-McDermid syndrome, MERRF, dup15q syndrome, ring chromosome 14, and ring chromosome 20.
  
  Significance.
  
  We estimated the incidence of rare epilepsies using population-based EHR 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.
  
  
• Subjects:
  Adolescent Child Child, Preschool Epilepsy Female Humans Incidence Infant Infant, Newborn Male New York City United States Urban Population

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• Keywords:
  Early Infantile Developmental And Epileptic Encephalopathy Epilepsy In Infancy With Migrating Focal Seizures Epilepsy With Myoclonic Atonic Seizures Rasmussen Syndrome Sturge-Weber Syndrome
• Source:
  Epilepsia. 65(8):2341-2353
• Pubmed ID:
  38795333
• Pubmed Central ID:
  PMC11315636
• Document Type:
  Journal Article
• Funding:
  CC999999/ImCDC/Intramural CDC HHSUnited States/ ; Centers for Disease Control and Prevention of the US Department of Health and Human Services (CDC/HHS)/
• Volume:
  65
• Issue:
  8
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:bc6d3b2878242eeaec2dddee76404fde304beff96b655c687f1f9fe00d7bb97fc80dfd31b8cc266101b01a9146caa83b353c8bcb57aa625662f77947275db9bb
• Download URL:
  https://stacks.cdc.gov/view/cdc/159795/cdc_159795_DS1.pdf
• File Type:
  [PDF - 631.23 KB ]