Evidence map›Paper›PMID 27861786›Full record

ArticleEpilepsia2017

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Epilepsia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% 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

57 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.

  1. Pooled it
  2. Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators.Angewandte Chemie (International ed. in English) · 2026
    Article
  3. Article
  4. Article
  5. Genetic Polymorphism in Febrile Seizures.Indian journal of pediatrics · 2026
    Observational
  6. Article
  7. Review
  8. Article
  9. Article
  10. Observational
  11. Article
  12. Review
  13. NovelInternational journal of molecular sciences · 2024
    Article
  14. Constitutive opening of the Kv7.2 pore activation gate causesProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  15. Article
  16. Article
  17. Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024
    Review
  18. Article
  19. MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of MissenseInternational journal of molecular sciences · 2024
    Article
  20. 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

12 authors at 6 institutions in 2 countries.

John J MillichapEpilepsy Center and Division of Neurology, Departments of Pediatrics and Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, U.S.A.ORCID 0000-0002-0798-0131
Francesco MiceliDepartment of Neuroscience, University of Naples "Federico II", Naples, Italy.
Michela De MariaDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Cynthia KeatorJane and John Justin Neurosciences Center, Cook Children's Hospital, Fort Worth, Texas, U.S.A.
Nishtha JoshiDepartments of Neurology, Neuroscience, Molecular, and Human Genetics, Baylor College of Medicine, Houston, Texas, U.S.A.
Baouyen TranDepartments of Neurology, Neuroscience, Molecular, and Human Genetics, Baylor College of Medicine, Houston, Texas, U.S.A.
Maria Virginia SoldovieriDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Paolo AmbrosinoDepartment of Medicine and Health Science, University of Molise, Campobasso, Italy.
Vandana ShashiDivision of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, U.S.A.
Mohamad A MikatiDivision of Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, U.S.A.
Edward C CooperDepartments of Neurology, Neuroscience, Molecular, and Human Genetics, Baylor College of Medicine, Houston, Texas, U.S.A.
Maurizio TaglialatelaDepartment of Neuroscience, University of Naples "Federico II", Naples, Italy.
University of Molise · ITBaylor College of Medicine · USDuke University · USCook Children's Medical Center · USNorthwestern University · USUniversity of Naples Federico II · IT

Funding

Mechanisms of benign neonatal familial convulsionsR01NS049119 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI COOPER, EDWARD C · 2005 to 2017
$3.8M
KCNQ2 Epileptic Encephalopathy: Overcoming Hurdles to Effective Disease-Modifying TherapyR13NS095592 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI COOPER, EDWARD C · 2015 to 2015
$15k
NINDS NIH HHS R01 NS049119NINDS NIH HHS R13 NS095592
6 · The paper itself

Abstract

Variants in KCNQ2 encoding for K

Indexed as

AnimalsArginineBrain DiseasesCells, CulturedChildChild, PreschoolCHO CellsCricetulusGlutamineHippocampusHumansInfantKCNQ2 Potassium ChannelLongitudinal StudiesMembrane PotentialsModels, MolecularArginineGlutamineKCNQ2 Potassium Channelaxon initial segmentEpileptic encephalopathyGene variantsGenotype-phenotypeKCNQ2Potassium channelsretigabine

Identifiers

PMID27861786
PMCPMC5219941
OpenAlexW2550390537

What OpenQuestion holds

Textmetadata
LicenceTDM
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.