SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
31
08
2019
revised:
19
11
2019
accepted:
20
11
2019
pubmed:
23
11
2019
medline:
19
5
2020
entrez:
23
11
2019
Statut:
ppublish
Résumé
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. 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. 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). 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 2020;87:281-288.
Substances chimiques
NAV1.1 Voltage-Gated Sodium Channel
0
SCN1A protein, human
0
Vaccines
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
281-288Subventions
Organisme : National Health and Medical Research Council
ID : 1006110
Pays : International
Organisme : National Health and Medical Research Council
ID : 1049557
Pays : International
Organisme : National Health and Medical Research Council
ID : 1063629
Pays : International
Organisme : National Health and Medical Research Council
ID : 1091593
Pays : International
Informations de copyright
© 2019 American Neurological Association.
Références
Barlow WE, Davis RL, Glasser JW, et al. The risk of seizures after receipt of whole-cell pertussis or measles, mumps, and rubella vaccine. N Engl J Med 2001;345:656-661.
Gold MS, Effler P, Kelly H, et al. Febrile convulsions after 2010 seasonal trivalent influenza vaccine: implications for vaccine safety surveillance in Australia. Med J Aust 2010;193:492-493.
Tse A, Tseng HF, Greene SK, et al. Signal identification and evaluation for risk of febrile seizures in children following trivalent inactivated influenza vaccine in the Vaccine Safety Datalink Project, 2010-2011. Vaccine 2012;30:2024-2031.
Macartney KK, Gidding HF, Trinh L, et al. Febrile seizures following measles and varicella vaccines in young children in Australia. Vaccine 2015;33:1412-1417.
Verity CM, Greenwood R, Golding J. Long-term intellectual and behavioral outcomes of children with febrile convulsions. N Engl J Med 1998;338:1723-1728.
Chang YC, Guo NW, Huang CC, et al. Neurocognitive attention and behavior outcome of school-age children with a history of febrile convulsions: a population study. Epilepsia 2000;41:412-420.
Annegers JF, Hauser WA, Shirts SB, Kurland LT. Factors prognostic of unprovoked seizures after febrile convulsions. N Engl J Med 1987;316:493-498.
Marini C, Mei D, Temudo T, et al. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007;48:1678-1685.
von Spiczak S, Helbig I, Drechsel-Baeuerle U, et al. A retrospective population-based study on seizures related to childhood vaccination. Epilepsia 2011;52:1506-1512.
Zhang YH, Burgess R, Malone JP, et al. Genetic epilepsy with febrile seizures plus: refining the spectrum. Neurology 2017;89:1210-1219.
Myers KA, Scheffer IE, Berkovic SF, ILAE Genetics Commission. Genetic literacy series: genetic epilepsy with febrile seizures plus. Epileptic Disord 2018;20:232-238.
Berkovic SF, Harkin L, McMahon JM, et al. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 2006;5:488-492.
McIntosh AM, McMahon J, Dibbens LM, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010;9:592-598.
Zamponi N, Passamonti C, Petrelli C, et al. Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study. Pediatr Neurol 2014;50:228-232.
Wong PT, Wong VC. Prevalence and characteristics of vaccination triggered seizures in Dravet syndrome in Hong Kong: a retrospective study. Pediatr Neurol 2016;58:41-47.
Verbeek NE, van der Maas NA, Jansen FE, et al. Prevalence of SCN1A-related Dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One 2013;8:e65758.
Feenstra B, Pasternak B, Geller F, et al. Common variants associated with general and MMR vaccine-related febrile seizures. Nat Genet 2014;46:1274-1282.
Zurynski Y, McIntyre P, Booy R, et al. Paediatric active enhanced disease surveillance: a new surveillance system for Australia. J Paediatr Child Health 2013;49:588-594.
Deng L, Gidding H, Macartney K, et al. Postvaccination febrile seizure severity and outcome. Pediatrics 2019;143. pii: e20182120.
Hull BP, Hendry AJ, Dey A, et al. Immunisation coverage annual report, 2014. Commun Dis Intell Q Rep 2017;41:E68-E90.
Bonhoeffer J, Menkes J, Gold MS, et al. Generalized convulsive seizure as an adverse event following immunization: case definition and guidelines for data collection, analysis, and presentation. Vaccine 2004;22:557-562.
National Center for Biotechnology Information, US National Library of Medicine. Gene. 2018. Available at: https://www.ncbi.nlm.nih.gov/gene. Accessed November, 2019.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
National Center for Biotechnology Information, U.S. National Library of Medicine. dbSNP. 2018. Available at: http://www.ncbi.nlm.nih.gov/SNP/. Accessed November, 2019.
Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 2018;46(D1):D1062-D1067.
Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016;536:285-291.
Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Collaborative Innovation Center for Neurogenetics and Channelopathies. SCN1A Mutation Database. 2014. Available at: http://www.caae.org.cn/gzneurosci/scn1adatabase/index.php. Accessed November, 2019.
Ohmori I, Ohtsuka Y, Ouchida M, et al. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain Dev 2003;25:488-493.
Orrico A, Galli L, Grosso S, et al. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin Genet 2009;75:579-581.
Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68:866-873.
Wallace RH, Hodgson BL, Grinton BE, et al. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765-769.
Verbeek NE, van der Maas NA, Sonsma AC, et al. Effect of vaccinations on seizure risk and disease course in Dravet syndrome. Neurology 2015;85:596-603.
Le Saux N, Barrowman NJ, Moore DL, et al. Decrease in hospital admissions for febrile seizures and reports of hypotonic-hyporesponsive episodes presenting to hospital emergency departments since switching to acellular pertussis vaccine in Canada: a report from IMPACT. Pediatrics 2003;112:e348.
Marini C, Scheffer IE, Nabbout R, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009;50:1670-1678.
Myers CT, Hollingsworth G, Muir AM, et al. Parental mosaicism in "de novo" epileptic encephalopathies. N Engl J Med 2018;378:1646-1648.
Audenaert D, Van Broeckhoven C, De Jonghe P. Genes and loci involved in febrile seizures and related epilepsy syndromes. Hum Mutat 2006;27:391-401.
Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel. Pediatr Neurol 2017;68:18-34.e3.
Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology 2017;88:1037-1044.
Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011;76:594-600.