Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).

Rimma Gamirova, Arina Grishagina, Elena Gorobets, Giuditta Bargiacchi, Marco Carotenuto

Abstract readCase Reports

In one paragraph

Article in Genes, 2026. 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

5 authors.

Rimma GamirovaNeurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.

Arina GrishaginaNeurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.ORCID 0000-0001-6338-1494

Elena GorobetsNeurocognitive Research Laboratory, Department of Applied and Experimental Linguistics, Center for Speech Pathology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.

Giuditta BargiacchiClinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0009-0003-0624-3038

Marco CarotenutoClinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-8136-7597

Funding

Tatarstan Academy of Sciences provided to higher education institutions, scientific and other organizations to support human resource development plans in terms of encouraging their research and academic staff to defend doctoral dissertations and conduct research activities (Agreement

6 · The paper itself

Abstract

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by a deficiency of β-galactosidase due to pathogenic variants in the

Indexed as

beta-GalactosidaseEpilepsyGangliosidosis, GM1Child, PreschoolCodonFemaleHumansMutation, MissensePhenotypebeta-GalactosidaseCodonGLB1 protein, humancodon 270epilepsygenotype–phenotype correlationGLB1GM1 gangliosidosisβ-galactosidase

Identifiers

PMID42353850

DOI10.3390/genes17060691

PMCPMC13299811

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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.