ArticleNeurology2017
Clinical and genetic factors predicting Dravet syndrome in infants with
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In one paragraph
Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.
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57citing papers in PubMed, 2 pooled it
7.1field-weighted citation impact, top 2% of its field
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Who cites it
57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Pooled it
- Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.Neurogenetics · 2021Pooled it
- Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome.Epilepsia · 2026Trial
- Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report.Epilepsia open · 2026Article
- Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum.Journal of clinical medicine · 2026Article
- Article
- Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.Epilepsia · 2026Article
- A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.bioRxiv : the preprint server for biology · 2025Article
- A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.Human genome variation · 2025Article
- Molecular Screening of SCN1A-Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution.Annals of clinical and translational neurology · 2025Article
- Stiripentol safety profile and efficacy in cases of SCN1A-related Dravet syndrome, multi-center experience, Saudi Arabia.Neurosciences (Riyadh, Saudi Arabia) · 2025Article
- Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.Epilepsia · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus.Epilepsia open · 2025Article
- Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.Annals of clinical and translational neurology · 2025Article
- The use of cannabidiol in patients with Lennox-Gastaut syndrome and Dravet syndrome in the UK Early Access Program: A retrospective chart review study.Epilepsy & behavior reports · 2025Article
- Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.Indian journal of pediatrics · 2025Review
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.Journal of human genetics · 2024Article
- Sex differences in cardiac mitochondrial respiration and reactive oxygen species production may predisposeJournal of molecular and cellular cardiology plus · 2024Article
- Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.Journal of neurology · 2024Review
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Authors and funding
19 authors at 3 institutions in 1 country.
Valentina CeticaFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Sara ChiariFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Davide MeiFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Elena ParriniFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Laura GrisottoFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Carla MariniFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Daniela PucattiFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Annarita FerrariFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Federico SiccaFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Nicola SpecchioFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Marina TrivisanoFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Domenica BattagliaFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Ilaria ContaldoFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Nelia ZamponiFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Cristina PetrelliFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Tiziana GranataFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Francesca RagonaFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Giuliano AvanziniFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
Renzo GuerriniFrom the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy. r.guerrini@meyer.it.
University of Florence · ITAzienda Ospedaliero Universitaria Ospedali Riuniti · ITFondazione Stella Maris · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the prognostic value of initial clinical and mutational findings in infants with
methodsCombining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information. We also included in the study demographic and mutational data of the healthy relatives of mutation carrier patients.
resultsNinety-seven individuals (48.5%) had Dravet syndrome, 49 (23.8%) had generalized/genetic epilepsy with febrile seizures plus, 30 (14.8%) had febrile seizures, 6 (3.5%) had focal epilepsy, and 18 (8.9%) were healthy relatives. The association study indicated that age at first seizure and frameshift mutations were associated with Dravet syndrome. The risk of Dravet syndrome was 85% in the 0- to 6-month group, 51% in the 6- to 12-month range, and 0% after the 12th month. ROC analysis identified onset within the sixth month as the diagnostic cutoff for progression to Dravet syndrome (sensitivity = 83.3%, specificity = 76.6%).
conclusionsIn individuals with
Indexed as
AdolescentAdultAgedAged, 80 and overAge of OnsetChildChild, PreschoolElectroencephalographyEpilepsies, MyoclonicFemaleGenetic Association StudiesHumansInfantLongitudinal StudiesMaleMiddle AgedNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, human
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