Evidence map›Paper›PMID 39629096›Full record

ArticleMolecular genetics and metabolism reports2024

A novel frameshift variant in the

Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, Soraia Poloni, Fabiano Oliveira Poswar, Carolina Fischinger Moura de Souza, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz

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In one paragraph

Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Lívia Maria Ferreira SobrinhoPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Thiago Oliveira SilvaPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Lilia Farret RefoscoMedical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
Soraia PoloniPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Fabiano Oliveira PoswarPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Carolina Fischinger Moura de SouzaClinical Research Center, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
Fernanda Sperb-LudwigPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Ida Vanessa Doederlein SchwartzPostgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1) is a genetic condition, most often of autosomal dominant inheritance, and corresponds to a broad spectrum of signs and symptoms due to hypoglycorrhachia, which include seizures, delay in neuropsychomotor development, intellectual disability, movement disorders, dysarthria and postnatal microcephaly. The severity of symptoms are variable. Symptomatic treatment consists of the ketogenic diet, which allows energy supply to the brain through sustained and continuous ketosis. In this study, we report a novel heterozygous frameshift variant (c.855_856insTT; p.Gly286Leufs*55) in the

Indexed as

GLUT1 deficiency syndromeKetogenic dietMolecular diagnosisNeuropsychomotor developmental delaySLC2A gene

Identifiers

PMID39629096
PMCPMC11612342

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