Evidence map›Paper›PMID 28116237›Full record

ArticleNeuroImage. Clinical2017

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

Anna Elisabetta Vaudano, Sara Olivotto, Andrea Ruggieri, Giuliana Gessaroli, Valentina De Giorgis, Antonia Parmeggiani, Pierangelo Veggiotti, Stefano Meletti

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NeuroImage. Clinical, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 31% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
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  3. Review
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  6. The role of SLC transporters for brain health and disease.Cellular and molecular life sciences : CMLS · 2021
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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

8 authors at 5 institutions in 1 country.

Anna Elisabetta VaudanoDepartment of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
Sara OlivottoBrain and Behavior Department, University of Pavia, Pavia, Italy.
Andrea RuggieriDepartment of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Giuliana GessaroliN.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
Valentina De GiorgisBrain and Behavior Department, University of Pavia, Pavia, Italy.
Antonia ParmeggianiChild Neurology and Psychiatry Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy; Department of Medical and Surgical Sciences, University of Bologna, Italy.
Pierangelo VeggiottiBrain and Behavior Department, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
Stefano MelettiDepartment of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, AUSL Modena, 41100 Modena, Italy.
University of Modena and Reggio Emilia · ITUniversity of Pavia · ITAzienda Unita' Sanitaria Locale Di Modena · ITFondazione Istituto Neurologico Nazionale Casimiro Mondino · ITPoliclinico S.Orsola-Malpighi · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS).

methodsEighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided.

resultsEEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli.

conclusionThe BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder.

Indexed as

AdolescentAdultBasal GangliaBiomarkersCarbohydrate Metabolism, Inborn ErrorsCerebral CortexChildChild, PreschoolElectroencephalographyEpilepsy, GeneralizedFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMonosaccharide Transport ProteinsBiomarkersMonosaccharide Transport ProteinsAbsence seizureBasal gangliaGeneralized spike-and-wave dischargesGenetic generalized epilepsyGLUT1

Identifiers

PMID28116237
PMCPMC5233795
OpenAlexW2561397339

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.