Evidence map›Paper›PMID 29383681›Full record

ArticleMolecular neurobiology2018

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP

Paolo Ambrosino, Elena Freri, Barbara Castellotti, Maria Virginia Soldovieri, Ilaria Mosca, Laura Manocchio, Cinzia Gellera, Laura Canafoglia, Silvana Franceschetti, Barbara Salis and 6 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Molecular neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.4field-weighted citation impact, top 19% of its field
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

15 citing papers in PubMed, 30 citations in OpenAlex.

  1. Neurology. Genetics · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Constitutive opening of the Kv7.2 pore activation gate causesProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. PIPCommunications biology · 2021
    Article
  11. Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.Pflugers Archiv : European journal of physiology · 2020
    Review
  12. Review
  13. A Novel Kv7.3 Variant in the Voltage-Sensing SFrontiers in physiology · 2020
    Article
  14. Article
  15. Article
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

16 authors at 4 institutions in 1 country.

Paolo AmbrosinoDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Elena FreriDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbara CastellottiUnit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Maria Virginia SoldovieriDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Ilaria MoscaDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Laura ManocchioDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Cinzia GelleraUnit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Laura CanafogliaClinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Silvana FranceschettiClinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbara SalisDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nunzio IraciDepartment of Pharmacy, University of Salerno, Fisciano, Salerno, Italy.
Francesco MiceliDepartment of Neuroscience, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Francesca RagonaDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Tiziana GranataDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jacopo C DiFrancescoClinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. jacopo.difrancesco@unimib.it.
Maurizio TaglialatelaDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy. mtaglial@unina.it.ORCID http://orcid.org/0000-0002-8202-0560
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Molise · ITUniversity of Naples Federico II · ITUniversity of Salerno · IT

Funding

Fondazione Telethon GGP15113Italian Ministry for University and Research (MIUR) Scientific Independence of Researchers 2014 RBSI1444EMMinistero della Salute GR-2010-2304834Ministero della Salute GR-2016-02363337Università degli Studi di Napoli Federico II Program STAR (project number 6-CSP-UNINA-120)
6 · The paper itself

Abstract

Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP

Indexed as

Ion Channel GatingAmino Acid SequenceAnimalsBrain DiseasesChildCricetinaeCricetulusFemaleHeterozygoteHumansInfantInfant, NewbornKCNQ2 Potassium ChannelKCNQ3 Potassium ChannelMaleMutant ProteinsKCNQ2 Potassium ChannelKCNQ3 Potassium ChannelMutant ProteinsPhosphatidylinositol 4,5-DiphosphateCompound heterozygosityEpilepsyEpileptic encephalopathyKv7 potassium channelsMutation

Identifiers

PMID29383681
OpenAlexW2786753567

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.