Evidence map›Paper›PMID 39246741›Full record

ArticleNeurology. Genetics2024

A Novel De Novo Gain-of-Function

Fabian Dannenberg, Arpad Von Moers, Petra Bittigau, Jörn Lange, Sylvia Wiegand, Ferenc Török, Gabriel Stölting, Jörg Striessnig, M Mahdi Motazacker, Marjoleine F Broekema and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Gating of hair cell CaScience advances · 2025
    Article
  4. Review
  5. Review
  6. Article
  7. Inactivation of CaV1 and CaV2 channels.The Journal of general physiology · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Fabian DannenbergFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0001-6500-318X
Arpad Von MoersFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.
Petra BittigauFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-6989-5223
Jörn LangeFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.
Sylvia WiegandFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.
Ferenc TörökFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0009-0006-8133-5778
Gabriel StöltingFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-2339-0545
Jörg StriessnigFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-9406-7120
M Mahdi MotazackerFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-2283-7405
Marjoleine F BroekemaFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-1832-1262
Markus SchuelkeFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0003-2824-3891
Angela M KaindlFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0001-9454-206X
Ute I SchollFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0002-0309-8045
Nadine J OrtnerFrom the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.ORCID https://orcid.org/0000-0003-3882-3283

Funding

Austrian Science Fund FWF P 35722
6 · The paper itself

Abstract

Background and Objectives: De novo gain-of-function variants in the Methods: The clinical data of the study patients were collected. After molecular analysis and cloning by site-directed mutagenesis, patch-clamp recordings of transfected tsA201 cells were conducted in whole-cell configuration. The functional effects of wild-type and mutated channels were analyzed. Results: One child is a severely affected boy with a novel de novo Discussion: Through this report, we expand the knowledge about the disease presentation in patients with

Identifiers

PMID39246741
PMCPMC11380501

What Socratic holds

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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 Socratic graph.