Evidence map›Paper›PMID 26802682›Full record

ArticleNeurotoxicology2016

Phenobarbital use and neurological problems in FMR1 premutation carriers.

Wilmar Saldarriaga, Pamela Lein, Laura Yuriko González Teshima, Carolina Isaza, Lina Rosa, Andrew Polyak, Randi Hagerman, Santhosh Girirajan, Marisol Silva, Flora Tassone

Abstract read
In one paragraph

Article in Neurotoxicology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
5.1field-weighted citation impact, top 5% 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

13 citing papers in PubMed, 21 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. General Anesthetic Use in Fragile X Spectrum Disorders.Journal of neurosurgical anesthesiology · 2019
    Review
  5. Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2019
    Article
  6. Fentanyl overdose in a female with theJournal of molecular genetics (Isleworth, London, England) · 2018
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Aging in Fragile X Premutation Carriers.Cerebellum (London, England) · 2016
    Article
  12. Alcohol use dependence in fragile X syndrome.Intractable & rare diseases research · 2016
    Article
  13. 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

10 authors at 5 institutions in 3 countries.

Wilmar SaldarriagaResearch Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS),Universidad del Valle, Cali, Colombia; Departments of Morphology and Obstetrics & Gynecology, Universidad del Valle, Hospital Universitario Del Valle, Cali, Colombia. Electronic address: wilmar.saldarriaga@correounivallle.edu.co.
Pamela LeinDepartment of Molecular Biosciences, University of California, Davis School of Veterinary Medicine, Davis, CA, USA; MIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA.
Laura Yuriko González TeshimaMedicine and Surgery School, Universidad del Valle, Cali, Colombia.
Carolina IsazaDepartment of Morphology, Universidad del Valle, Cali, Colombia.
Lina RosaLa Misericordia International Clinic, Barranquilla, Colombia; Instituto Superior de Estudios Psicológicos, Barcelona, Spain; Autonomous University of Barcelona-Sant Joan de Déu Hospital, Barcelona, Spain.
Andrew PolyakDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Randi HagermanDepartment of Pediatrics and the MIND Institute, University of California, Davis Medical Center, Sacramento, CA, USA.
Santhosh GirirajanDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Marisol SilvaDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.
Flora TassoneMIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.
Universidad del Valle · COUniversity of California, Davis · USPennsylvania State University · USUniversitat Autònoma de Barcelona · ESUniversity of California Davis Medical Center · US

Funding

GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
UC Davis Center for Children's Environmental Health (CCEH)P01ES011269 · NIEHS · UNIVERSITY OF CALIFORNIA DAVIS · PI VAN DE WATER, JUDY A. · 2001 to 2018
$12.5M
Molecular and Cellular Basis of PCB Developmental Neurotoxicity: ViCTER supplementR01ES014901 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HANS-JOACHIM LEHMLER, Pamela J Lein · 2009 to 2026
$9.3M
Rodent Behavior CoreU54HD079125 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI ABBEDUTO, LEONARD J. · 2013 to 2019
$8.5M
NICHD NIH HHS R01 HD036071NICHD NIH HHS U54 HD079125NIEHS NIH HHS P01 ES011269NIEHS NIH HHS R01 ES014901
6 · The paper itself

Abstract

Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats). Premutation carriers have elevated FMR1 mRNA expression levels, which have been associated with neurotoxicity potentially causing neurodevelopmental problems or neurological problems associated with aging. However, cognitive impairments or neurological problems may also be related to increased vulnerability of premutation carriers to neurotoxicants, including phenobarbital. Here we present a study of three sisters with the premutation who were exposed differentially to phenobarbital therapy throughout their lives, allowing us to compare the neurological effects of this drug in these patients.

Indexed as

Cognition DisordersDNA Mutational AnalysisExcitatory Amino Acid AntagonistsFamily HealthFemaleFragile X Messenger Ribonucleoprotein 1HumansMagnetic Resonance ImagingMiddle AgedNervous System DiseasesPhenobarbitalRNA, MessengerTrinucleotide RepeatsExcitatory Amino Acid AntagonistsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1PhenobarbitalRNA, MessengerFMR1Fragile XNeurotoxicityPesticidesPhenobarbitalPremutation

Identifiers

PMID26802682
PMCPMC4808401
OpenAlexW2303613157

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.