Evidence map›Paper›PMID 32913944›Full record

ArticleEpilepsia open2020

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.

Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger and 14 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Epilepsia open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05887739 (Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome), which is not on this map. Cited by 142 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
142citing papers in PubMed, 3 pooled it
16.6field-weighted citation impact, top 1% 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.

NCT05887739 active not recruitingnot on this mapstarted 2023, after this paper: background citation

Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome

TypeobservationalSponsorIRCCS National Neurological Institute "C. Mondino" FoundationRan2023 to 2026Enrolled32ConditionsGLUT1DS1, Dystonia, Gait Disorders, Neurologic, Gait AtaxiaArmsInertial gait analysis
3 · Its place in the literature

Who cites it

142 citing papers in PubMed, 3 syntheses or guidelines pooled it, 263 citations in OpenAlex.

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82 more citing papers are in PubMed but not listed here.

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

24 authors at 18 institutions in 10 countries.

Joerg KlepperChildren's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.ORCID https://orcid.org/0000-0003-3741-025X
Cigdem AkmanDepartment of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
Marisa ArmenoDepartment of Nutrition Hospital Pediatria JP Garrahan Buenos Aires Argentina.ORCID https://orcid.org/0000-0002-6776-6380
Stéphane AuvinDepartment of Pediatric Neurology CHU Hôpital Robert Debre APHP Paris France.ORCID https://orcid.org/0000-0003-3874-9749
Mackenzie CervenkaDepartment of Neurology Comprehensive Epilepsy Center Johns Hopkins University School of Medicine Baltimore MD USA.
Helen J CrossUCL NIHR BRC Great Ormond Street Institute of Child Health London UK.
Valentina De GiorgisDepartment of Child Neurology and Psychiatry IRCCS Mondino Foundation Pavia Italy.
Adela Della MarinaDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany.
Kristin EngelstadDepartment of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
Nicole HeussingerDepartment of Pediatric Neurology Paracelsus Medical Private University Nuremberg Germany.
Eric H KossoffDepartments of Neurology and Pediatrics Johns Hopkins University Baltimore MD USA.
Wilhelmina G LeenDepartment of Neurology Canisius Wilhemina Hospital Nijmegen The Netherlands.
Baerbel LeiendeckerDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany.
Umrao R MonaniCenter for Motor Neuron Biology & Disease Departments of Neurology and Pathology & Cell Biology Columbia University Irving Medical Center New York NY USA.
Hirokazu OguniDepartment of Pediatrics Tokyo Women's Medical University Tokyo Japan.
Elizabeth NealMatthew's Friends Charity & Clinics Lingfield UK.
Juan M PascualDepartments of Neurology and Neurotherapeutics, Physiology and Pediatrics Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas TX USA.
Toni S PearsonMount Sinai Center for Headache & Pain Medicine New York NY USA.
Roser PonsFirst Department of Pediatrics Agia Sofia Hospital University of Athens Athens Greece.
Ingrid E SchefferFlorey and Murdoch Institutes Austin Health and Royal Children's Hospital The University of Melbourne Melbourne Victoria Australia.
Pierangelo VeggiottiPediatric Neurology V. Buzzi Hospital Child Neuropsychiatry University of Milan Milan Italy.
Michél WillemsenDepartment of Pediatric Neurology Radboud University Medical Centre Amalia Children's Hospital Nijmegen Netherlands.
Sameer M ZuberiRoyal Hospital for Children & College of Medical Veterinary & Life Sciences University of Glasgow Glasgow UK.
Darryl C De VivoDepartment of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA.
Columbia University · USEssen University Hospital · DEJohns Hopkins University · USAssistance Publique – Hôpitaux de Paris · FRCanisius-Wilhelmina Ziekenhuis · NLColumbia University Irving Medical Center · USGarrahan Hospital · ARGreat Ormond Street Hospital · GBKlinikum Aschaffenburg · DEMatthew's Friends · GBNational and Kapodistrian University of Athens · GRParacelsus Medizinische Privatuniversität · DERadboud University Nijmegen · NLRoyal Children's Hospital · AURoyal Hospital for Children · GBSouthwestern Medical Center · USTokyo Women's Medical University · JPUniversity of Milan · IT

Funding

Dietary treatment of Glut1 deficiency (G1D) - Revision - 1R01NS094257 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI PASCUAL, JUAN M. · 2016 to 2021
$4.0M
Pyruvate dehydrogenase encephalopathy: mechanisms and therapyR01NS102588 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI PASCUAL, JUAN M. · 2017 to 2021
$1.8M
Modulation of neural function in energy failureR01NS077015 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI PASCUAL, JUAN M. · 2012 to 2016
$1.7M
NINDS NIH HHS R01 NS077015NINDS NIH HHS R01 NS094257NINDS NIH HHS R01 NS102588
6 · The paper itself

Abstract

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic

Indexed as

childrenconsensusdietepilepsyglucose transportGlut1Glut1DGlut1 Deficiency SyndromeGlut1DSguidelineketogenic

Identifiers

PMID32913944
PMCPMC7469861
OpenAlexW3037444348

What OpenQuestion holds

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Registered trials

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.