Evidence map›Paper›PMID 39457462›Full record

ArticleGenes2024

Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.

Raegan M Adams, Can Ozlu, Lauren E Bailey, Rayann M Solidum, Sydney Cooper, Carrie R Best, Jennifer Elacio, Brian C Kavanaugh, Tanya L Brown, Kimberly Nye and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Raegan M AdamsCenter for Alzheimer's and Neurodegenerative Diseases, UT Southwestern Medical Center, Dallas, TX 75390, USA.ORCID 0000-0002-2990-6813
Can OzluDepartment of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Lauren E BaileyCenter for Alzheimer's and Neurodegenerative Diseases, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Rayann M SolidumDepartment of Neurology and Neurological Sciences, Stanford University, Palo Alto, CA 94304, USA.
Sydney CooperPerot Neuroscience Translational Research Center, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Carrie R BestDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Jennifer ElacioDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Brian C KavanaughDepartment of Psychiatry & Human Behavior, Brown University, Providence, RI 02912, USA.ORCID 0000-0002-4785-4439
Tanya L BrownTESS Research Foundation, Menlo Park, CA 94026, USA.ORCID 0000-0001-9554-178X
Kimberly NyeTESS Research Foundation, Menlo Park, CA 94026, USA.ORCID 0000-0002-9012-8088
Judy LiuDepartment of Neurology, Brown University, Providence, RI 02912, USA.
Brenda E PorterDepartment of Neurology and Neurological Sciences, Stanford University, Palo Alto, CA 94304, USA.ORCID 0000-0001-6346-7327
Kimberly GoodspeedDepartment of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.ORCID 0000-0002-8823-2839
Rachel M BaileyCenter for Alzheimer's and Neurodegenerative Diseases, UT Southwestern Medical Center, Dallas, TX 75390, USA.ORCID 0000-0002-5909-5548

Funding

UT Southwestern NORCP30DK127984 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI Jeffrey M Zigman · 2022 to 2026
$7.4M
NIDDK NIH HHS P30 DK127984Taysha Gene Therapies N/ATESS Research Foundation N/A
6 · The paper itself

Abstract

backgroundSLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders, sleep abnormalities have not been reported in SLC13A5 patients.

methodsHere, we assessed sleep disturbances in patients through caregiver reported surveys and in a transgenic mouse model of SLC13A5 deficiency. A total of 26 patients were evaluated with the Sleep Disturbance Scale for Children three times over a one-year span. Sleep and wake activities were assessed in the SLC13A5 knock-out (KO) mice using wireless telemetry devices.

resultsA high burden of clinically significant sleep disturbances were reported in the patients, with heterogeneous symptoms that remained stable across time. While sleep disturbances were common, less than 30% of patients were prescribed medications for sleep. Comparatively, in SLC13A5 KO mice using EEG recordings, significant alterations were found during light cycles, when rodents typically sleep. During the sleep period, SLC13A5 mice had increased activity, decreased paradoxical sleep, and changes in absolute power spectral density, indicating altered sleep architecture in the mouse model.

conclusionsOur results demonstrate a significant component of sleep disturbances in SLC13A5 patients and mice, highlighting a potential gap in patient care. Further investigation of sleep dysfunction and the underlying etiologies of sleep disturbances in SLC13A5 citrate transporter disorder is warranted.

Indexed as

Mice, KnockoutSleep Wake DisordersAdolescentAnimalsChildChild, PreschoolDicarboxylic Acid TransportersDisease Models, AnimalElectroencephalographyFemaleHumansMaleMiceNeurodevelopmental DisordersSymportersDicarboxylic Acid TransportersSLC13A5 protein, humanSlc13a5 protein, mouseSymportersEEGmicepatientsSDSCSLC13A5sleep

Identifiers

PMID39457462
PMCPMC11507356

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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.