{"doi":"10.1172/jci189830","title":"Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive","abstract":"Disorders of GABRA3, the only epilepsy-associated GABAA receptor subunit gene on the X chromosome, have eluded clinical clarity due to ambiguous inheritance patterns and variable phenotypes. The long-standing assumption that all pathogenic variants cause loss of function further obscured genotype-phenotype relationships and hindered progress. Here, we curated a cohort of individuals with a GABRA3 variant, integrating deep phenotyping, genotyping, family history, and electrophysiology with a targeted mouse model. Among 43 individuals with 19 GABRA3 variants, functional analyses revealed gain- and loss-of-function effects, each linked to distinct clinical profiles. Gain-of-function variants were associated with severe, treatment-resistant epilepsy and profound intellectual disability, disproportionately affecting males, who were often nonambulant and had cortical visual impairment. Loss-of-function variants produced milder phenotypes, with epilepsy rarely observed; affected males showed behavioral issues and language delay, while females were unaffected carriers. Our gain-of-function (Gabra3Q242L/+) mouse model mirrored these sex-specific differences, showing increased seizure susceptibility, early death, and marked cortical hyperexcitability. These insights resolve longstanding uncertainties surrounding GABRA3 and redefine how X-linked disorders are interpreted. They demonstrate that it is the functional impact of a variant, not its mere presence, that determines whether a condition manifests dominantly or recessively. This distinction carries important implications for genetic counseling, precision medicine, and the broader interpretation of X-linked neurodevelopmental disorders.","journal":"Journal of Clinical Investigation","year":2025,"id":542595,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":29.6,"corpus_rank":8919,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.5243,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":37.5,"fair_percentile":50.687863038826045,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1431615,"name":"Khaing Phyu Aung","orcid":"0000-0003-3744-5321","position":1,"is_corresponding":false},{"id":477075,"name":"Vivian W. Y. Liao","orcid":"0000-0001-8608-0563","position":2,"is_corresponding":false},{"id":477074,"name":"Nathan L. Absalom","orcid":"0000-0002-6084-5991","position":3,"is_corresponding":false},{"id":1185373,"name":"Han Chow Chua","orcid":"0000-0003-4477-174X","position":4,"is_corresponding":false},{"id":1431616,"name":"Xuetao Gan","orcid":"0000-0003-2469-5807","position":5,"is_corresponding":false},{"id":814209,"name":"Miaomiao Mao","orcid":"0000-0003-2184-1506","position":6,"is_corresponding":false},{"id":678901,"name":"Chaseley E. McKenzie","orcid":"0000-0001-9022-5702","position":7,"is_corresponding":false},{"id":1432146,"name":"Hian M. Lee","orcid":null,"position":8,"is_corresponding":false},{"id":1431617,"name":"Sebastian Ortiz","orcid":"0000-0002-3432-1932","position":9,"is_corresponding":false},{"id":355070,"name":"Rebecca C. Spillmann","orcid":null,"position":10,"is_corresponding":false},{"id":55836,"name":"Vandana Shashi","orcid":"0000-0002-5011-7501","position":11,"is_corresponding":false},{"id":1431618,"name":"Rodney A. Radtke","orcid":"0000-0001-5029-5829","position":12,"is_corresponding":false},{"id":242578,"name":"Ghayda Mirzaa","orcid":"0000-0003-2648-7657","position":13,"is_corresponding":false},{"id":1432147,"name":"Patricia A. Weisner","orcid":null,"position":14,"is_corresponding":false},{"id":648624,"name":"Josue Flores Daboub","orcid":"0000-0002-9548-4188","position":15,"is_corresponding":false},{"id":1432148,"name":"Caroline Hagedorn","orcid":null,"position":16,"is_corresponding":false},{"id":322431,"name":"Pinar Bayrak‐Toydemir","orcid":"0000-0003-3241-6273","position":17,"is_corresponding":false},{"id":1280013,"name":"Desiree DeMille","orcid":"0000-0001-7924-3379","position":18,"is_corresponding":false},{"id":572966,"name":"Jian Zhao","orcid":"0000-0002-4416-7334","position":19,"is_corresponding":false},{"id":1432149,"name":"Nandita Bajaj","orcid":null,"position":20,"is_corresponding":false},{"id":478887,"name":"Yline Capri","orcid":"0000-0002-6269-5966","position":21,"is_corresponding":false},{"id":242574,"name":"Boris Keren","orcid":"0000-0001-6172-8247","position":22,"is_corresponding":false},{"id":393549,"name":"Miriam Schmidts","orcid":"0000-0002-1714-6749","position":23,"is_corresponding":false},{"id":331080,"name":"Ingrid M.B.H. van de Laar","orcid":"0000-0002-2523-1230","position":24,"is_corresponding":false},{"id":332843,"name":"Marjon A. van Slegtenhorst","orcid":null,"position":25,"is_corresponding":false},{"id":21573,"name":"Rafał Płoski","orcid":"0000-0001-6286-5526","position":26,"is_corresponding":false},{"id":1432150,"name":"Marta Bogotko","orcid":null,"position":27,"is_corresponding":false},{"id":1431619,"name":"Danielle K. Bourque","orcid":"0000-0002-2244-6201","position":28,"is_corresponding":false},{"id":695249,"name":"Ebba Alkhunaizi","orcid":"0000-0002-9026-7002","position":29,"is_corresponding":false},{"id":889457,"name":"Lauren Chad","orcid":"0000-0003-0468-6663","position":30,"is_corresponding":false},{"id":1432151,"name":"Nada Quercia","orcid":null,"position":31,"is_corresponding":false},{"id":526097,"name":"Houda Zghal Elloumi","orcid":null,"position":32,"is_corresponding":false},{"id":286603,"name":"Ingrid M. Wentzensen","orcid":"0000-0001-6994-1640","position":33,"is_corresponding":false},{"id":326371,"name":"Michael C. Kruer","orcid":"0000-0002-1373-7891","position":34,"is_corresponding":false},{"id":1431620,"name":"Pritha Bisarad","orcid":"0000-0002-2677-9847","position":35,"is_corresponding":false},{"id":1413671,"name":"Carolina I. Galaz-Montoya","orcid":"0000-0002-9180-8202","position":36,"is_corresponding":false},{"id":1432152,"name":"Violeta Rusu","orcid":null,"position":37,"is_corresponding":false},{"id":996435,"name":"Dominique Braun","orcid":"0000-0002-4340-4334","position":38,"is_corresponding":false},{"id":1313097,"name":"Katie Angione","orcid":null,"position":39,"is_corresponding":false},{"id":1432153,"name":"Jessica C. Win","orcid":null,"position":40,"is_corresponding":false},{"id":1432154,"name":"Camilo Espinosa-Jovel","orcid":null,"position":41,"is_corresponding":false},{"id":456144,"name":"Pia Zacher","orcid":"0000-0002-0211-5763","position":42,"is_corresponding":false},{"id":456161,"name":"Konrad Platzer","orcid":"0000-0001-6127-6308","position":43,"is_corresponding":false},{"id":297269,"name":"Samuel F. Berkovic","orcid":"0000-0003-4580-841X","position":44,"is_corresponding":false},{"id":154477,"name":"Ingrid E Scheffer","orcid":"0000-0002-2311-2174","position":45,"is_corresponding":false},{"id":477085,"name":"Mary Chebib","orcid":"0000-0001-6204-3178","position":46,"is_corresponding":false},{"id":296374,"name":"Guido Rubboli","orcid":"0000-0002-5309-2514","position":47,"is_corresponding":false},{"id":296376,"name":"Rikke S. Møller","orcid":"0000-0002-9664-1448","position":48,"is_corresponding":false},{"id":678907,"name":"Christopher A. Reid","orcid":"0000-0002-1457-8028","position":49,"is_corresponding":false},{"id":477084,"name":"Philip K. Ahring","orcid":"0000-0003-1807-3331","position":50,"is_corresponding":false},{"id":628339,"name":"Katrine M. Johannesen","orcid":"0000-0002-7356-3109","position":0,"is_corresponding":true}],"reference_count":27,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:52:55.809501Z","pmid":"41289009","pmcid":"PMC12807467","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":22.2222,"fair_a":62.5,"fair_i":60.0,"fair_r":66.6667,"fair_zscore":0.1208,"fair_rationale":{"fair_score":37.5,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":22.22,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No persistent identifier in a PID scheme (DOI, Handle, ARK, repository accession) is given for the dataset; the article DOI and supplemental DOI are not dataset identifiers.","anchors":["RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit","RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier'","FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'"],"scored":true,"signal":null},{"key":"f_repository_named","label":"Named repository","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No repository name is given; 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no gatekeeper is named for access to the human-subject data.","anchors":["NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee","RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and ","NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse"],"scored":false,"signal":null},{"key":"a_timeline_retention","label":"Availability timing & retention","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No sentence addresses when the data become available or how long they persist. [majority verdict 'no' (4/5 passes agreed)]","anchors":["NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines","NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy'","RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'"],"scored":false,"signal":null}]},"I":{"name":"Interoperable","score":60.0,"criteria":[{"key":"i_open_nonproprietary_format","label":"Open file format","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No file format token is named for the released data.","anchors":["FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co","RDA-R1.3-02D — data is expressed in a machine-understandable community standard","RDA-I1-01D — data uses a knowledge representation expressed in a standardised format"],"scored":true,"signal":null},{"key":"i_community_standard_vocabulary","label":"Community standard / vocabulary","kind":"llm","weight":1.0,"fraction":1.0,"verdict":"yes","evidence":"For all clinical characteristics, human phenotype ontology terms were used whenever possible to make data comparable across individuals.","grounded":true,"rationale":"Human Phenotype Ontology is a community standard vocabulary [majority verdict 'yes' (4/5 passes agreed)]","anchors":["RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential)","RDA-R1.3-01D — 'Data complies with a community standard'","RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'"],"scored":false,"signal":null},{"key":"i_qualified_references","label":"Identifiers for the resources the data depend on","kind":"llm","weight":0.5,"fraction":1.0,"verdict":"yes","evidence":"Structural mapping of the 15 missense variants reported in this study on the native mouse GABA A receptor α3 structure (PDB 8G4X).","grounded":true,"rationale":"The paper cites the external resource PDB 8G4X (a PDB identifier) for the structure used in mapping.","anchors":["RDA-I3-01M — '(meta)data include references to other (meta)data'","RDA-I3-03M — 'metadata includes qualified references to other metadata'","FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'"],"scored":false,"signal":null}]},"R":{"name":"Reusable","score":66.67,"criteria":[{"key":"r_reuse_license","label":"Reuse licence","kind":"llm","weight":2.0,"fraction":1.0,"verdict":"yes","evidence":"This work is licensed under the Creative Commons Attribution 4.0 International License.","grounded":true,"rationale":"The data, as part of the work, are under an open standard license (CC BY 4.0). 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[majority verdict 'partial' (3/5 passes agreed)]","anchors":["RDA-R1-01M — '(Meta)data are richly described with a plurality of accurate and relevant attribu","FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'","NIH DMS Policy Element 3 (NOT-OD-21-014) — Standards (documentation and metadata to accompany t"],"scored":false,"signal":null},{"key":"r_versioning","label":"Snapshot identified","kind":"llm","weight":0.5,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No version token or date is stated for the data snapshot.","anchors":["DataCite Metadata Schema 4.6 — the 'Version' property","RDA-R1.2-01M — provenance information (which version was used is provenance)","NSTC Desirable Characteristics of Data Repositories (2022) — 'Provenance', 'Retention Policy'"],"scored":true,"signal":null},{"key":"x_code_availability","label":"Analysis code available","kind":"llm","weight":1.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No code location is provided; only third-party tools are named.","anchors":["NIH DMS Policy Element 2 (NOT-OD-21-014) — 'Related Tools, Software and/or Code'","FAIR4RS Principles v1.0 (Chue Hong et al., 2022; RDA/FORCE11/ReSA) — FAIR Principles for Resear","FORCE11 Software Citation Principles (Smith, Katz & Niemeyer, 2016, PeerJ CS 2:e86)"],"scored":true,"signal":null},{"key":"x_funding_attribution","label":"Funder and award number","kind":"llm","weight":0.5,"fraction":1.0,"verdict":"yes","evidence":"The Australian National Health and Medical Research Council (grant APP2019780 to PKA, MC, CAR, VWYL, and RSM). The Lundbeck Foundation (grant R383-2022-276 to RSM and PKA). The National Institute of Neurological Disorders and Stroke of the NIH (award U01HG007672 to RCS).","grounded":true,"rationale":"Specific grant numbers are provided [majority verdict 'yes' (4/5 passes agreed)]","anchors":["DataCite Metadata Schema 4.6 — 'FundingReference' property (funderName, funderIdentifier, award","Crossref Funder Registry — canonical funder identifiers for funding metadata","RDA-F2-01M — rich metadata provided to allow discovery (funding is part of the descriptive reco"],"scored":true,"signal":null}]}},"actions":[{"key":"f_dataset_pid","dimension":"F","label":"Persistent identifier for the data","action":"Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. 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Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No identifier for the dataset appears in the reference list or body text; the only identifiers are the article DOI and supplemental DOI, which are not dataset identifiers.","gain":8.33,"priority":"important","scored":true},{"key":"i_open_nonproprietary_format","dimension":"I","label":"Open file format","action":"Release the data in an open, community-standard format (CSV/TSV, JSON, HDF5, NetCDF, FASTQ, VCF, NIfTI…) instead of — or alongside — any proprietary or instrument-native format, and name the format in the paper. 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It is the cheapest single thing that makes a dataset usable by someone who was not in the lab, and a table buried in the article does not travel with the data.","anchors":["yes","partial","no"],"verdict":"partial","current":0.5,"evidence":"Supplemental Table 1","why":"Variable definitions are provided in the supplementary table (inside the article), with no documentation object named as travelling with the data. [majority verdict 'partial' (3/5 passes agreed)]","gain":0.0,"priority":"important","scored":false},{"key":"a_controlled_access_for_sensitive","dimension":"A","label":"Gatekeeper for sensitive data","action":"Route sensitive data through an institutional gatekeeper — deposit in a controlled- access repository (dbGaP, EGA) with a Data Access Committee and a published DUA — rather than through the corresponding author's inbox. An author-gated dataset dies with the author's email address, and 'on reasonable request' has been shown repeatedly not to yield data.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"Data are openly shared in the manuscript and supplements; no gatekeeper is named for access to the human-subject data.","gain":0.0,"priority":"useful","scored":false},{"key":"a_timeline_retention","dimension":"A","label":"Availability timing & retention","action":"State when the data become available AND how long they will be retained — cite the repository's preservation policy. NIH DMS Element 4 asks for both; most papers give neither.","anchors":["yes","partial","no"],"verdict":"no","current":0.0,"evidence":null,"why":"No sentence addresses when the data become available or how long they persist. [majority verdict 'no' (4/5 passes agreed)]","gain":0.0,"priority":"useful","scored":false}],"suggestions":["Mint or cite a persistent identifier for the dataset — a repository DOI or an accession from a registered repository — and print it in the paper. A bare URL is not persistent: it is the single most common cause of a dead data link five years after publication.","Deposit the data in a repository registered in re3data/FAIRsharing (a domain repository such as GEO, SRA, dbGaP, PRIDE, or a generalist such as Zenodo, Dryad, Dataverse) and name it explicitly in the paper. A lab website is not an archive: it has no retention commitment and no accession.","Cite the dataset in the reference list like a publication — creator, year, title, repository, DOI/accession — and cite it in-text where it is used. Only a reference- list entry is machine-readable to Crossref/DataCite, and only a citation lets the data earn credit.","Release the data in an open, community-standard format (CSV/TSV, JSON, HDF5, NetCDF, FASTQ, VCF, NIfTI…) instead of — or alongside — any proprietary or instrument-native format, and name the format in the paper. A dataset that needs a €2,000 licence to open is not reusable.","Publish the analysis code in a public forge, archive a tagged release with a DOI (Zenodo/Software Heritage), and cite that DOI in the paper. NIH DMS Element 2 asks for the tools and code, not only the data — and 'available on request' is not a locator."],"model":"deepseek/deepseek-v4-flash","agent_version":"fair_agent_v8","fulltext_source":"epmc_xml"},"fair_model":"deepseek/deepseek-v4-flash","fair_agent_version":"fair_agent_v8","fair_fulltext_source":"epmc_xml","fair_has_llm":true,"fair_computed_at":"2026-07-20T13:21:08.871382Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}