ArticleAmerican journal of human genetics2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
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Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed.
- Lipid flip-flop in biological membranes: through the lens of TMEM16F.Physiological reviews · 2026Review
- Immunological mechanisms and prevention strategies for febrile seizures in children.Frontiers in immunology · 2026Review
- Wide-ranging cellular functions of ion channels and lipid scramblases in the structurally related TMC, TMEM16 and TMEM63 families.Nature structural & molecular biology · 2025Review
- Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.American journal of human genetics · 2025Article
- Disulfidptosis as a key regulator of glioblastoma progression and immune cell impairment.Frontiers in immunology · 2025Article
- Mechanism of action and therapeutic value of anoctamin-1 in gastrointestinal cancers.Frontiers in immunology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors.
Fang YangExperimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Anais BegemannInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Nadine ReichhartExperimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Akvile HaeckelInstitute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Eyk SchellenbergerInstitute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Ronja Fini SturmExperimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Magalie BarthUniversity Hospital of Angers, Department of Genetics, Angers, France.
Sissy BassaniInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Paranchai BoonsawatInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Thomas CourtinSorbonne Université, INSERM, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, 75013 Paris, France; Hôpital Pitié-Salpêtrière, DMU BioGe'M, AP-HP, 75013 Paris, France.
Bruno DelobelService de Cytogénétique, GH de l'Institut Catholique de Lille, Hopital Saint Vincent de Paul, Lille, France.
EuroEPINOMICS-RES Dravet working group
Boudewijn GunningStichting Epilepsie Instellingen Nederland, Zwolle, the Netherlands.
Katia HardiesApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium.
Mélanie JennessonDepartment of Pediatrics, CHU, Reims, France.
Louis LegoffUniversity Hospital of Angers, Department of Genetics, Angers, France.
Tarja LinnankiviEpilepsia Helsinki, University of Helsinki and Helsinki University Hospital, 00029 HUS Helsinki, Finland; Department of Pediatric Neurology and Pediatric Research Center, New Children's Hospital, Helsinki University Hospital and University of Helsinki, 00029 HUS Helsinki, Finland.
Clément ProuteauUniversity Hospital of Angers, Department of Genetics, Angers, France.
Noor SmalApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium.
Marta SpodenkiewiczDepartment of Genetics, La Réunion University Hospital, Saint-Pierre, France.
Sandra P ToelleDepartment of Pediatric Neurology, Children's University Hospital Zurich, Zurich, Switzerland.
Koen Van GassenUniversity Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
Wim Van PaesschenLaboratory for Epilepsy Research, KU Leuven, and Neurology Department, University Hospitals Leuven, 3000 Leuven, Belgium.
Nienke VerbeekUniversity Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
Alban ZieglerUniversity Hospital of Angers, Department of Genetics, Angers, France.
Markus ZweierInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Anselm H C HornInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Heinrich StichtDivision of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Holger LercheDepartment of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Sarah WeckhuysenApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium.
Olaf StraußExperimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.
Anita RauchInstitute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Children's University Hospital Zurich, Zurich, Switzerland. Electronic address: anita.rauch@medgen.uzh.ch.
Funding
Wellcome Trust
Abstract
Anoctamins are a family of Ca
Indexed as
AnoctaminsMutation, MissenseAdolescentCalciumChildChild, PreschoolEpilepsyFemaleGenes, DominantGenetic Association StudiesHEK293 CellsHumansMalePedigreePhospholipid Transfer ProteinsANO4 protein, humanAnoctaminsCalciumPhospholipid Transfer ProteinsANO4anoctaminCa(2+)-dependent ion channeldevelopmental and epileptic encephalopathyGEFS+phospholipid scramblasetemporal lobe epilepsyTMEM16D
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.