ArticleNeurology. Genetics2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
What it found
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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.
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.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Intrinsic and non-cell-autonomous roles for the neurodevelopmental syndrome-linked transcription factor UNC-3/EBF.Nature communications · 2026Article
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- Intrinsic and non-cell autonomous roles for a neurodevelopmental syndrome-linked transcription factor.bioRxiv : the preprint server for biology · 2025Article
- Disrupted development of sensory systems and the cerebellum in a zebrafish ebf3a mutant.G3 (Bethesda, Md.) · 2025Article
- Article
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Authors and funding
10 authors at 1 institution in 1 country.
Claudia CiaccioDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-4100-7028
Chiara PantaleoniDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0003-4417-1672
Marco MoscatelliDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-6745-474X
Luisa ChiappariniDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0001-8115-9897
Vincenzo NigroDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-3378-5006
Enza Maria ValenteDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-0600-6820
Francesca SciaccaDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-7411-4567
Laura CanafogliaDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-5385-761X
Sara BulgheroniDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-0905-8810
Stefano D'ArrigoDepartment of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision Medicine (V.N.), Università Della Campania Luigi Vanvitelli, Naples; Department of Molecular Medicine (E.M.V.), University of Pavia, Pavia; Molecular Genetics and Cytogenetics Lab-Neurogenetics Research Center (E.M.V.), IRCCS Mondino Foundation, Pavia; Laboratory of Cytogenetics (F.S.), Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Integrated Diagnostics for Epilepsy (Laura Canafoglia), Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0001-5188-9418
University of Milan · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Heterozygous mutations or deletions of the Methods: We report on 6 patients (2 females and 4 males, age range 2-12 years), of whom 4 carrying a heterozygous point mutation of the Results: Phenotype was consistent in all patients, but with wide variability in severity. Developmental milestones were invariably delayed and resulted in an extremely variable cognitive impairment. All patients showed ataxic signs, as confirmed by SARA scores, often associated with hypotonia. Brain MRI revealed in all children a cerebellar malformation with vermis hypoplasia and a peculiar foliation anomaly characterized by a radial disposition of cerebellar folia (dandelion sign). Neurophysiologic examinations were unremarkable. Discussion:
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