{"doi":"10.1177/0883073813509016","title":"Broad Phenotypic Heterogeneity due to a Novel\n                    <i>SCN1A</i>\n                    Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus","abstract":"<jats:p>\n                    Genetic (generalized) epilepsy with febrile seizures plus is a familial epilepsy syndrome with marked phenotypic heterogeneity ranging from simple febrile seizure to severe phenotypes. Here we report on a large Israeli family with genetic (generalized) epilepsy with febrile seizures plus and 14 affected individuals. A novel\n                    <jats:italic>SCN1A</jats:italic>\n                    missense mutation in exon 21 (p.K1372E) was identified in all affected individuals and 3 unaffected carriers. The proband had Dravet syndrome, whereas febrile seizure plus phenotypes were present in all other affected family members. Simple febrile seizures were not observed. Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors. We suggest that families with extreme phenotype distributions can represent prime candidates for the identification of genetic or environmental modifiers.\n                  </jats:p>","journal":"Journal of Child Neurology","year":2014,"id":680031,"datarank":0.5983476069846413,"base_score":3.9889840465642745,"endowment":3.9889840465642745,"self_citation_contribution":0.5983476069846413,"citation_network_contribution":0.0,"self_endowment_contribution":0.5983476069846413,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":53,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":821346,"name":"Sharon Aharoni","orcid":"0000-0001-7255-6276","position":1,"is_corresponding":false},{"id":297305,"name":"Zaid Afawi","orcid":"0000-0002-1121-9513","position":2,"is_corresponding":false},{"id":1776781,"name":"Odeya Bennett","orcid":null,"position":3,"is_corresponding":false},{"id":494275,"name":"Silke Appenzeller","orcid":"0000-0002-5472-8692","position":4,"is_corresponding":false},{"id":297302,"name":"Manuela Pendziwiat","orcid":"0000-0001-8942-8334","position":5,"is_corresponding":false},{"id":306488,"name":"Gregor Kuhlenbäumer","orcid":null,"position":6,"is_corresponding":false},{"id":1776786,"name":"Lina Basel-Vanagaite","orcid":null,"position":7,"is_corresponding":false},{"id":1776789,"name":"Avinoam Shuper","orcid":null,"position":8,"is_corresponding":false},{"id":297306,"name":"Amos D. Korczyn","orcid":"0000-0003-0125-2579","position":9,"is_corresponding":false},{"id":44516,"name":"Ingo Helbig","orcid":"0000-0001-8486-0558","position":10,"is_corresponding":false},{"id":1776778,"name":"Hadassa Goldberg-Stern","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Broad Phenotypic Heterogeneity due to a Novel\n                    <i>SCN1A</i>\n                    Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus","abstract":"<jats:p>\n                    Genetic (generalized) epilepsy with febrile seizures plus is a familial epilepsy syndrome with marked phenotypic heterogeneity ranging from simple febrile seizure to severe phenotypes. Here we report on a large Israeli family with genetic (generalized) epilepsy with febrile seizures plus and 14 affected individuals. A novel\n                    <jats:italic>SCN1A</jats:italic>\n                    missense mutation in exon 21 (p.K1372E) was identified in all affected individuals and 3 unaffected carriers. The proband had Dravet syndrome, whereas febrile seizure plus phenotypes were present in all other affected family members. Simple febrile seizures were not observed. Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors. We suggest that families with extreme phenotype distributions can represent prime candidates for the identification of genetic or environmental modifiers.\n                  </jats:p>","is_dataset_classified":null,"base_score":3.9889840465642745,"endowment":3.9889840465642745,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"24257433","pmcid":null,"openalex_id":"https://openalex.org/W2025120175","authors":[],"funders":[],"total_grants":0,"fwci":2.0377,"citation_percentile":0.85416258,"influential_citations":0,"citation_trend":[{"year":2014,"count":2},{"year":2015,"count":5},{"year":2016,"count":4},{"year":2017,"count":5},{"year":2018,"count":3},{"year":2019,"count":4},{"year":2020,"count":7},{"year":2021,"count":7},{"year":2022,"count":5},{"year":2023,"count":4},{"year":2024,"count":6},{"year":2025,"count":1}],"oa_status":"closed","license":"https://journals.sagepub.com/page/policies/text-and-data-mining-license","oa_locations":[{"url":"https://journals.sagepub.com/doi/pdf/10.1177/0883073813509016","host_type":"publisher"},{"url":"https://journals.sagepub.com/doi/full-xml/10.1177/0883073813509016","host_type":"publisher"},{"url":"https://doi.org/10.1177/0883073813509016","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/24257433","host_type":"repository"}],"fields_of_study":["Epilepsy research and treatment","Ion channel regulation and function","Genomics and Rare Diseases"],"mesh_terms":["Adolescent","Adult","Aged","Child","Child, Preschool","Seizures, Febrile","Epilepsy","Epilepsies, Myoclonic","Family","Female","Humans","Infant","Israel","Male","Middle Aged","Pedigree","Phenotype","Mutation, Missense","Young Adult","NAV1.1 Voltage-Gated Sodium Channel"],"keywords":["Dravet syndrome","Epilepsy","Proband","Febrile seizure","Phenotype","Missense mutation","Generalized epilepsy","Genetic heterogeneity","Epilepsy syndromes","Mutation","Genetic counseling","Medicine","Genetics","Genetic testing","Biology","Gene","Psychiatry","Scn1a","Gefs+","Epilepsy Genetics"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-17T14:14:32.093574Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}