Evidence map›Paper›PMID 41875761›Full record

ArticleMolecular genetics and metabolism2026

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

Gerard T Berry, E Naomi Vos, Didem Demirbas, William Brucker, Allissia Gilmartin, Maria K Lehtinen, Edward Yang, Sanjay P Prabhu, Jie Chen, Xiaoping Huang and 9 more

Abstract read
In one paragraph

Article in Molecular genetics and metabolism, 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

19 authors.

Gerard T BerryDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
E Naomi VosDepartment of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, the Netherlands; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy; United for Metabolic Diseases (UMD), Amsterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Didem DemirbasDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
William BruckerDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Allissia GilmartinDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Maria K LehtinenDepartment of Pathology, Boston Children's Hospital, Boston, MA, USA.
Edward YangDepartment of Radiology, Boston Children's Hospital, Boston, MA, USA.
Sanjay P PrabhuDepartment of Radiology, Boston Children's Hospital, Boston, MA, USA.
Jie ChenDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Xiaoping HuangMitochondrial Biology and Neurodegeneration Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Wanshu QiDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA.
Michael J BennettDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Robin L HaynesDepartment of Pathology, Boston Children's Hospital, Boston, MA, USA.
Lance RodanDivision of Genetics & Genomics, Boston Children's Hospital, Boston,MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Annapurna PoduriDivision of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Phillip L PearlDivision of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Alexander RotenbergDivision of Epilepsy, Department of Neurology, Harvard Medical School, Boston, MA, USA; Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Miao HeDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
M Estela Rubio-GozalboDepartment of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, the Netherlands; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy; United for Metabolic Diseases (UMD), Amsterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.

Funding

Control of neural stem cells by the nascent cerebrospinal fluidR01NS088566 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI LEHTINEN, MARIA · 2014 to 2024
$5.5M
NINDS NIH HHS R01 NS088566
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Congenital disorders of glycosylationDefects of glycosylphosphatidylinositol (GPI) anchor synthesisDevelopmental and epileptic encephalopathyMyo-inositol

Identifiers

PMID41875761
PMCPMC13568792

What OpenQuestion holds

Textmetadata
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.