title: Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
abstract: OBJECTIVE
  SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.
  
  
  METHODS
  We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients.
  
  
  RESULTS
  We classified patients as: SMEI/SMEB = 55; GEFS+= 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations.
  
  
  CONCLUSIONS
  We obtained a frequency of 71%SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Temudo
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Ferrari
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Buti
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Dravet
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Ana I
authors.initials: AI
authors.lastname: Dias
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Ana
authors.initials: A
authors.lastname: Moreira
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Eulalia
authors.initials: E
authors.lastname: Calado
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Seri
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Brian
authors.initials: B
authors.lastname: Neville
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Juan
authors.initials: J
authors.lastname: Narbona
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Evan
authors.initials: E
authors.lastname: Reid
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Sicca
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Cross
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D002874:Chromosome Mapping / Q000379:methods; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005334:Fever / Q000150:complications; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D012326:RNA Splicing / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels