{"doi":"10.1212/wnl.57.7.1191","title":"Generalized epilepsy with febrile seizures plus","abstract":null,"journal":"Neurology","year":2001,"id":626007,"datarank":0.5806801516361837,"base_score":3.8712010109078907,"endowment":3.8712010109078907,"self_citation_contribution":0.5806801516361837,"citation_network_contribution":0.0,"self_endowment_contribution":0.5806801516361837,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":47,"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":1619235,"name":"Y. G. Weber","orcid":null,"position":1,"is_corresponding":false},{"id":1619236,"name":"H. Baier","orcid":null,"position":2,"is_corresponding":false},{"id":1619237,"name":"K. Jurkat–Rott","orcid":null,"position":3,"is_corresponding":false},{"id":1619238,"name":"O. Kraus de Camargo","orcid":null,"position":4,"is_corresponding":false},{"id":1619239,"name":"A. C. Ludolph","orcid":null,"position":5,"is_corresponding":false},{"id":1619240,"name":"H. Bode","orcid":null,"position":6,"is_corresponding":false},{"id":1619241,"name":"F. Lehmann–Horn","orcid":null,"position":7,"is_corresponding":false},{"id":1619234,"name":"H. Lerche","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Generalized epilepsy with febrile seizures plus","abstract":"BACKGROUND: Generalized epilepsy with febrile seizures plus (GEFS(+)) is a recently described benign childhood-onset epileptic syndrome with autosomal dominant inheritance. The most common phenotypes are febrile seizures (FS) often with accessory afebrile generalized tonic-clonic seizures (GTCS, FS(+)). In about one third, additional seizure types occur, such as absences, myoclonic, or atonic seizures. So far, three mutations within genes encoding subunits of neuronal voltage-gated Na(+) channels have been found in GEFS(+) families, one in SCN1B (beta(1)-subunit) and two in SCN1A (alpha-subunit). METHODS: The authors examined the phenotypic variability of GEFS(+) in a five-generation German family with 18 affected individuals. Genetic linkage analysis was performed to exclude candidate loci. RESULTS: Inheritance was autosomal dominant with a penetrance of about 80%. A variety of epilepsy phenotypes occurred predominantly during childhood. Only four individuals showed the FS or FS(+) phenotype. The others presented with different combinations of GTCS, tonic seizures, atonic seizures, and absences, only in part associated with fever. The age at onset was 2.8 +/- 1.3 years. Interictal EEG recordings showed rare, 1- to 2-second-long generalized, irregular spike-and-wave discharges of 2.5 to 5 Hz in eight cases and additional focal parietal discharges in one case. Linkage analysis excluded the previously described loci on chromosomes 2q21-33 and 19q13. All other chromosomal regions containing known genes encoding neuronal Na(+) channel subunits on chromosomes 3p21-24, 11q23, and 12q13 and described loci for febrile convulsions on chromosomes 5q14-15, 8q13-21, and 19p13.3 were also excluded. CONCLUSION: These results indicate further clinical and genetic heterogeneity in GEFS(+).","is_dataset_classified":null,"base_score":3.8712010109078907,"endowment":3.8712010109078907,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"11591834","pmcid":null,"openalex_id":"https://openalex.org/W2087287319","authors":[],"funders":[],"total_grants":0,"fwci":2.2791,"citation_percentile":0.87533875,"influential_citations":0,"citation_trend":[{"year":2013,"count":1},{"year":2014,"count":2},{"year":2015,"count":4},{"year":2017,"count":2},{"year":2018,"count":1},{"year":2019,"count":2},{"year":2020,"count":2},{"year":2021,"count":1},{"year":2022,"count":2},{"year":2024,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://www.neurology.org/doi/pdfdirect/10.1212/WNL.57.7.1191","host_type":"publisher"},{"url":"https://doi.org/10.1212/wnl.57.7.1191","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/11591834","host_type":"repository"}],"fields_of_study":["Epilepsy research and treatment","Ion channel regulation and function","Neuroscience and Neuropharmacology Research","Adult","Aged","Child","Child, Preschool","Electroencephalography","Epilepsy, Generalized","Family Health","Female","Genetic Heterogeneity","Genetic Linkage","Germany","Haplotypes","Humans","Male","Middle Aged","Pedigree","Penetrance","Seizures, Febrile"],"mesh_terms":["Adult","Aged","Child","Child, Preschool","Seizures, Febrile","Electroencephalography","Epilepsy, Generalized","Family Health","Female","Germany","Haplotypes","Humans","Genetic Linkage","Male","Middle Aged","Pedigree","Genetic Heterogeneity","Penetrance"],"keywords":["Penetrance","Epilepsy","Ictal","Generalized epilepsy","Epilepsy syndromes","Genetic linkage","Seizure types","Genetics","Febrile seizure","Childhood absence epilepsy","Phenotype","Biology","Medicine","Neuroscience","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T11:55:24.187657Z","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":[]}