Please use this identifier to cite or link to this item: 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
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