Evidence map›Paper›PMID 42290677›Full record

ArticleNeurology. Genetics2026

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in

Vini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, Jorge Luis Rodriguez Gil, Emily Garavatti, Marcello Scala, Mariasavina Severino, Stephanie Efthymiou, Simon Amaral, Tze Chang Ng and 15 more

Abstract read
In one paragraph

Article in Neurology. Genetics, 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

25 authors.

Vini NagarajThe Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.ORCID https://orcid.org/0000-0001-6959-3623
Quentin Hugo ThomasINSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.ORCID https://orcid.org/0000-0003-1185-1663
Paulo Ribeiro NóbregaDepartment of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.ORCID https://orcid.org/0000-0002-0021-9358
Jorge Luis Rodriguez GilDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.
Emily GaravattiCenter for Neonatal Research, Children's Hospital Orange County, CA.ORCID https://orcid.org/0009-0008-4483-8602
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.ORCID https://orcid.org/0000-0003-2194-7239
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.ORCID https://orcid.org/0000-0003-4730-5322
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, United Kingdom.ORCID https://orcid.org/0000-0003-4900-9877
Simon AmaralDepartment of Neurology, Dijon University Hospital, France.
Tze Chang NgThe Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.ORCID https://orcid.org/0000-0003-0233-9051
Terrie InderCenter for Neonatal Research, Children's Hospital Orange County, CA.ORCID https://orcid.org/0000-0002-6012-9944
Jian GaoCenter for the Investigation of Membrane Excitability Diseases, and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO.ORCID https://orcid.org/0000-0003-0253-3217
Kenneth A MatreyekDepartment of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH.ORCID https://orcid.org/0000-0001-9149-551X
Matheus Augusto Araújo CastroDepartment of Neurology, University of Sao Paulo School of Medicine, Brazil.ORCID https://orcid.org/0000-0003-0335-8799
Fernando KokDepartment of Neurology, University of Sao Paulo School of Medicine, Brazil.ORCID https://orcid.org/0000-0002-7577-9122
Mauricio Takeshi SakataGenética Médica e Forense, Campinas, Brazil.
Pedro Lucas Grangeiro de Sá Barreto LimaDepartment of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.ORCID https://orcid.org/0000-0002-8517-2324
André Luiz Santos PessoaDepartment of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.ORCID https://orcid.org/0000-0003-0043-5373
Hana SafraouINSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.ORCID https://orcid.org/0000-0002-1726-9474
Jonathan A BernsteinDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.ORCID https://orcid.org/0000-0001-5369-346X
Colin G NicholsDepartment of Neurology, Dijon University Hospital, France.ORCID https://orcid.org/0000-0002-4929-2134
Gijs van HaaftenDepartment of Genetics, University Medical Center, Utrecht, the Netherlands.ORCID https://orcid.org/0000-0003-3033-0329
Frederic Tran Mau-ThemINSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.ORCID https://orcid.org/0000-0002-3795-9456
Marie F SmelandDepartment of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway; and.ORCID https://orcid.org/0000-0002-1015-6338
Conor McClenaghanThe Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.ORCID https://orcid.org/0000-0002-0859-3854

Funding

Exploiting structure-function of potassium channels for modulationR35GM162430 · NIGMS · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Conor McClenaghan · 2026 to 2026
$393k
NIGMS NIH HHS R35 GM162430
6 · The paper itself

Abstract

Background and Objectives: The Methods: We combine multiple case reports with genetic diagnoses and functional tests of recombinant K Results: We report 5 cases of AIMS, including a neonate, and a woman who presented as a sexagenarian with signs of dementia. All variants are predicted to lead to nonsense mediated decay of Discussion: These findings provide new insights into the spectrum of pathology and natural history of AIMS. This new cohort underscores that AIMS is characterized by the combination of periventricular leukomalacia, developmental delay and intellectual disability, and muscle weakness and fatigability - and is driven by biallelic loss-of-function variants in

Identifiers

PMID42290677
PMCPMC13262668

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.