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Title: SCN1A variants in vaccine-related febrile seizures: a prospective study.
Austin Authors: Damiano, John A;Deng, Lucy;Li, Wenhui;Burgess, Rosemary;Schneider, Amy L ;Crawford, Nigel W;Buttery, Jim;Gold, Michael;Richmond, Peter;Macartney, Kristine K;Hildebrand, Michael S ;Scheffer, Ingrid E ;Wood, Nicholas;Berkovic, Samuel F 
Affiliation: Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
National Centre for Immunisation Research and Surveillance, The Children's Hospital at Westmead, Sydney, Australia
Children's Hospital Westmead Clinical School, The University of Sydney, Sydney, Australia
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia
Murdoch Children's Research Institute, Parkville, Australia
Infection and Immunity, Monash Children's Hospital, Department of Paediatrics Monash Centre for Health Care Research and Implementation, Monash University, Clayton, Australia
Discipline of Paediatrics, School of Medicine, Women's and Children's Hospital, University of Adelaide, Adelaide, Australia
Vaccine Trials Group, Wesfarmer's Centre of Vaccines and Infectious Disease, Telethon Kids Institute, and Dept of General Paediatrics, Perth Children's Hospital, Nedlands, Australia
Division of Paediatrics, School of Medicine, University of Western Australia, Perth, Australia
The Florey Institute of Neurosciences and Mental Health, Melbourne, Victoria, Australia
Issue Date: Feb-2020 2019-12-12
Publication information: Annals of neurology 2020; 87(2): 281-288
Abstract: 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 spectre 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. 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 paediatric hospitals. We detected two pathogenic variants in vaccine proximate cases (p.R568X and p.W932R), both of whom developed Dravet syndrome, and one in a non-vaccine proximate case (p.V947L) who had Febrile seizures plus from 9 months. All had generalised tonic-clonic seizures lasting longer than 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% CI 1.31- 2.81]). 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. This article is protected by copyright. All rights reserved.
DOI: 10.1002/ana.25650
ORCID: 0000-0002-2664-4395
PubMed URL: 31755124
Type: Journal Article
Subjects: Dravet syndrome
Febrile seizures
Appears in Collections:Journal articles

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