ArticleAmerican journal of human genetics2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 1 pooled it
4.7field-weighted citation impact, top 4% of its field
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 citations in OpenAlex.
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- One pocket to activate them all (?): Efforts on understanding the modulator pocket in K2P channels.Channels (Austin, Tex.) · 2026Review
- Cross-talk of filter gate and lower helices drives polymodal regulation and disease in TREK channels.Nature communications · 2026Article
- BRET-Based Approaches for Ion Channels: Emerging Applications and Future Directions.Archiv der Pharmazie · 2026Review
- The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Human genetics · 2026Article
- Swapped and non-swapped TRAAK states co-exist in membranes at a ratio influenced by temperature.Nature communications · 2026Article
- Lipid Regulation of Mechanosensitive Ion Channels.International journal of molecular sciences · 2026Review
- Light-induced analgesia provides a drug-free optical method for pain relief via activation of TRAAK kNature communications · 2026Article
- K2P channels as emerging therapeutic targets for pain: insights from functional studies and transcriptomic analyses.Frontiers in pharmacology · 2026Review
- Mapping the knowledge of epilepsy and Potassium Channels: A scientometric analysis in CiteSpace and VOSviewer.IBRO neuroscience reports · 2025Article
- Article
- Potassium channel clustering: mechanisms shaping axonal excitability.Frontiers in cellular neuroscience · 2025Review
- Cannabinoid inhibition of mechanosensitive KbioRxiv : the preprint server for biology · 2024Article
- Mechanosensitive ion channels in glaucoma pathophysiology.Vision research · 2024Review
- An ankyrin G-binding motif mediates TRAAK periodic localization at axon initial segments of hippocampal pyramidal neurons.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.Nature communications · 2024Article
- Tension activation of mechanosensitive two-pore domain K+ channels TRAAK, TREK-1, and TREK-2.Nature communications · 2024Article
- The scale of zebrafish pectoral fin buds is determined by intercellular K+ levels and consequent Ca2+-mediated signaling via retinoic acid regulation of Rcan2 and Kcnk5b.PLoS biology · 2024Article
- KCNK4-related channelopathy causing a neurodevelopmental syndrome.BMJ case reports · 2023Article
- Modulation of Mechanosensitive Potassium Channels by a Membrane-targeted Nongenetic Photoswitch.The journal of physical chemistry. B · 2023Article
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 3 countries.
Christiane K BauerCenter for Experimental Medicine, Institute of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: cbauer@uke.uni-hamburg.de.
Paolo CalligariDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Francesca Clementina RadioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Viviana CaputoDepartment of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.
Maria Lisa DenticiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Nadia FalahDivision of Clinical Genetics, Nemours Children's Hospital, Orlando, FL 32827, USA.
Frances HighMedical Genetics, Mass General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114-2696, USA.
Francesca PantaleoniGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Sabina BarresiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Andrea CiolfiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Simone PizziGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Richard PersonGeneDX, Gaithersburg, MD 20877, USA.
Sarah RichardsGeneDX, Gaithersburg, MD 20877, USA.
Megan T ChoGeneDX, Gaithersburg, MD 20877, USA.
Daniela J Claps SepulvedaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Stefano ProGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Stella Maris, 56128 Calambrone, Italy.
Giuseppe ZampinoCenter for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Maria Cristina DigilioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Gianfranco BocchinfusoDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Bruno DallapiccolaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Lorenzo StellaDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Bambino Gesù Children's Hospital · ITUniversity of Rome Tor Vergata · ITFondazione Stella Maris · ITIstituto Superiore di Sanità · ITMassachusetts General Hospital · USNemours Children's Clinic · USSapienza University of Rome · ITUniversità Cattolica del Sacro Cuore · ITUniversität Hamburg · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aberrant activation or inhibition of potassium (K
Indexed as
ChildChild, PreschoolFemaleHumansInfantIon Channel GatingMaleMolecular Dynamics SimulationMutationNeurodevelopmental DisordersPotassium ChannelsKCNK4 protein, humanPotassium ChannelschannelopathyepilepsyFHEIG syndromegingival overgrowthhypertrichosisintellectual disabilityK2P channelsneurodevelopmental disorderTRAAK
Identifiers
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Textmetadata
Read underepoch 390
Registered trials
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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.