{"doi":"10.1016/j.ebiom.2022.104244","title":"Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies","abstract":"BACKGROUND: 7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. METHODS: 1292 families with GGE were studied by next-generation sequencing. Whole-cell patch-clamp recordings, biotinylation and phospholipid overlay assays were performed in mammalian cells combined with homology modelling. FINDINGS: -interaction. INTERPRETATION: 7.5-expressing neurons. Further studies on network level are necessary to understand which circuits are affected and how this induces generalized seizures. FUNDING: DFG/FNR Research Unit FOR-2715 (Germany/Luxemburg), BMBF rare disease network Treat-ION (Germany), foundation 'no epilep' (Germany).","journal":"EBioMedicine","year":2022,"id":254706,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":21,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9436,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":629426,"name":"Julian Schubert","orcid":null,"position":1,"is_corresponding":false},{"id":628345,"name":"Josua Kegele","orcid":"0000-0002-0126-7466","position":2,"is_corresponding":false},{"id":464512,"name":"Audrey Labalme","orcid":null,"position":3,"is_corresponding":false},{"id":814209,"name":"Miaomiao Mao","orcid":"0000-0003-2184-1506","position":4,"is_corresponding":false},{"id":814735,"name":"Jacqueline Heighway","orcid":null,"position":5,"is_corresponding":false},{"id":814210,"name":"Guiscard Seebohm","orcid":"0000-0001-9303-5373","position":6,"is_corresponding":false},{"id":814211,"name":"Pu Yan","orcid":"0000-0001-8598-5037","position":7,"is_corresponding":false},{"id":211034,"name":"Mahmoud Koko","orcid":"0000-0001-9512-0184","position":8,"is_corresponding":false},{"id":814212,"name":"Kezban Aslan","orcid":"0000-0002-3868-9814","position":9,"is_corresponding":false},{"id":483920,"name":"Hande Çağlayan","orcid":null,"position":10,"is_corresponding":false},{"id":814213,"name":"Bernhard J. Steinhoff","orcid":"0000-0001-5995-5862","position":11,"is_corresponding":false},{"id":456800,"name":"Yvonne Weber","orcid":"0000-0002-0806-5592","position":12,"is_corresponding":false},{"id":814736,"name":"Pascale Kéo‐Kosal","orcid":null,"position":13,"is_corresponding":false},{"id":297269,"name":"Samuel F. Berkovic","orcid":"0000-0003-4580-841X","position":14,"is_corresponding":false},{"id":285430,"name":"Michael S. Hildebrand","orcid":"0000-0003-2739-0515","position":15,"is_corresponding":false},{"id":678906,"name":"Steven Petrou","orcid":"0000-0002-4960-6375","position":16,"is_corresponding":false},{"id":29008,"name":"Roland Krause","orcid":"0000-0001-9938-7126","position":17,"is_corresponding":false},{"id":297276,"name":"Patrick May","orcid":"0000-0001-8698-3770","position":18,"is_corresponding":false},{"id":323128,"name":"Gaëtan Lesca","orcid":"0000-0001-7691-9492","position":19,"is_corresponding":false},{"id":678905,"name":"Snezana Maljevic","orcid":"0000-0003-1876-5872","position":20,"is_corresponding":false},{"id":297270,"name":"Holger Lerche","orcid":"0000-0002-1783-8710","position":21,"is_corresponding":false},{"id":628344,"name":"Johanna Krüger","orcid":"0000-0003-4346-1133","position":0,"is_corresponding":true}],"reference_count":40,"raw_metadata":null,"created_at":"2026-07-19T00:25:08.518416Z","pmid":"36088682","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":[]}