Evidence map›Paper›PMID 37662110›Full record

ArticleFrontiers in neuroscience2023

The phenotypic presentation of adult individuals with

Katrine M Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R Heidlebaugh, Kathryn F Oetjens, Anna Abuli Vidal, Jakob Christensen and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.5field-weighted citation impact, top 10% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

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  6. A transporter's doom or destiny:Frontiers in molecular neuroscience · 2024
    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

14 authors at 10 institutions in 6 countries.

Katrine M JohannesenDepartment of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
Jimmi NielsenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Anne SabersEpilepsy Clinic, Department of Neurology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
Bertrand IsidorService de Génétique Médicale, CHU de Nantes, Nantes, France.
Anja A Kattentidt-MouravievaStichting Zuidwester, Middelharnis, Netherlands.
Dominik ZieglgänsbergerDepartment of Neurolgy, Kantonsspital St. Gallen, St. Gallen, Switzerland.
Alexis R HeidlebaughAutism and Developmental Medicine Institute, Danville, VA, United States.
Kathryn F OetjensAutism and Developmental Medicine Institute, Danville, VA, United States.
Anna Abuli VidalDepartment of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Jakob ChristensenDepartment of Neurology, Aarhus University Hospital, Aarhus, Denmark.
Jacob TillerSLC6A1 Connect, Dallas, TX, United States.
Amber N FreedSLC6A1 Connect, Dallas, TX, United States.
Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Member of the European Reference Network, EpiCARE, Dianalund, Denmark.
Guido RubboliDepartment of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Member of the European Reference Network, EpiCARE, Dianalund, Denmark.
Autism & Developmental Medicine Institute · USRigshospitalet · DKAarhus University · DKGénétique Médicale & Génomique Fonctionelle · FRGlostrup Hospital · DKKantonsspital St. Gallen · CHUniversity of Copenhagen · DKUniversity of Southern Denmark · DKVall d'Hebron Institut de Recerca · ESZuidwester · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Method: Here, we sought to describe patients with Results: A total of 15 adult patients with Discussion: The phenotype displayed in the adult patients presented here resembled that of the pediatric cohort with ID, epilepsy, and behavioral disturbances, indicating that the phenotype of

Indexed as

epilepsyepilepsy geneticsintellectual disabilityneurodevelopmental disordersSLC6A1

Identifiers

PMID37662110
PMCPMC10472133
OpenAlexW4385927505

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.