Article in Neurology. Genetics, 2022. 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
0.7field-weighted citation impact, top 26% 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, 6 citations in OpenAlex.
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
10 authors at 1 institution in 1 country.
Angelisa FrascaDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0001-7094-0469
Efterpi PavlidouDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0002-1542-0070
Matteo BizzottoDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0003-1622-9371
Yunan GaoDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0003-1228-1252
Dario BalestraDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0002-6675-9429
Mirko PinottiDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0002-4114-7055
Hans Atli DahlDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.
Nicholas D MazarakisDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0001-9592-0157
Nicoletta LandsbergerDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0003-0820-3155
Maria KinaliDepartment of Medical Biotechnology and Translational Medicine (A.F., M.B., N.L.), University of Milan, Italy; Department of Speech and Language Therapy (E.P.), University of Ioannina, Greece; Gene Therapy (Y.G., N.D.M.), Division of Neuroscience, Department of Brain Sciences, Faculty of Medicine, Imperial College London, Hammersmith Campus, United Kingdom; Department of Life Sciences and Biotechnology (D.B., M.P.), University of Ferrara, Italy; Amplexa Genetics A/S (H.A.D.), Odense, Denmark; Department of Paediatric Neurology (M.K.), The Portland Hospital, HCA Healthcare UK; and Imperial College (M.K.), London, United Kingdom.ORCID https://orcid.org/0000-0003-2272-2162
University of Florence · IT
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Background and Objectives: CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked Methods: MRI and video EEG telemetry were used to describe brain activity and capture seizure. The Bayley III test was used to evaluate the patient development. Reverse transcriptase PCR was used to analyze whether the identified nucleotide variant affects messenger RNA stability and/or splicing. The X chromosome inactivation pattern was analyzed determining the DNA methylation status of the androgen receptor ( Results: Our data suggested that the proband tends toward a skewed X chromosome inactivation pattern in favor of the novel variant. The molecular investigation revealed that the p.(Thr958Arg) substitution leads to a significant increase in the autophosphorylation of both the TEY motif and residue Tyr Discussion: Our data provide a strong indication that the c.2873C>G nucleotide substitution represents an hypermorphic pathogenic variation of
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.
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. · full record | OpenQuestion