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https://hdl.handle.net/2440/122746
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Type: | Journal article |
Title: | SCN1A Variants in vaccine-related febrile seizures: a prospective study |
Author: | Damiano, J.A. Deng, L. Li, W. Burgess, R. Schneider, A.L. Crawford, N.W. Buttery, J. Gold, M. Richmond, P. Macartney, K.K. Hildebrand, M.S. Scheffer, I.E. Wood, N. Berkovic, S.F. |
Citation: | Annals of Neurology, 2020; 87(2):281-288 |
Publisher: | Wiley Online Library |
Issue Date: | 2020 |
ISSN: | 0364-5134 1531-8249 |
Statement of Responsibility: | John A. Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L. Schneider ... Michael Gold ... et al. |
Abstract: | Objective: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile seizures, and rare pathogenic variants in SCN1A cause the severe developmental and epileptic encephalopathy Dravet syndrome. Following vaccination, febrile seizures may raise the specter of poor outcome and inappropriately implicate vaccination as the cause. We aimed to determine the prevalence of SCN1A variants in children having their first febrile seizure either proximal to vaccination or unrelated to vaccination compared to controls. Methods: We performed SCN1A sequencing, blind to clinical category, in a prospective cohort of children presenting with their first febrile seizure as vaccine proximate (n = 69) or as non–vaccine proximate (n = 75), and children with no history of seizures (n = 90) recruited in Australian pediatric hospitals. Results: We detected 2 pathogenic variants in vaccine‐proximate cases (p.R568X and p.W932R), both of whom developed Dravet syndrome, and 1 in a non–vaccine‐proximate case (p.V947L) who had febrile seizures plus from 9 months. All had generalized tonic–clonic seizures lasting >15 minutes. We also found enrichment of a reported risk allele, rs6432860‐T, in children with febrile seizures compared to controls (odds ratio = 1.91, 95% confidence interval = 1.31–2.81). Interpretation: Pathogenic SCN1A variants may be identified in infants with vaccine‐proximate febrile seizures. As early diagnosis of Dravet syndrome is essential for optimal management and outcome, SCN1A sequencing in infants with prolonged febrile seizures, proximate to vaccination, should become routine. ANN NEUROL 2019 |
Keywords: | Humans Seizures, Febrile Genetic Predisposition to Disease Vaccines Case-Control Studies Prospective Studies Mutation Child, Preschool Infant Female Male NAV1.1 Voltage-Gated Sodium Channel |
Rights: | © 2019 American Neurological Association. |
DOI: | 10.1002/ana.25650 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1006110 http://purl.org/au-research/grants/nhmrc/1049557 http://purl.org/au-research/grants/nhmrc/1063629 http://purl.org/au-research/grants/nhmrc/1091593 |
Published version: | http://dx.doi.org/10.1002/ana.25650 |
Appears in Collections: | Aurora harvest 8 Medicine publications |
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