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KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.

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Title: KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.
Authors: Politano D; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Serpieri V; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy., Rognone E; Advanced Imaging Center and Artificial Intelligence, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Advanced Imaging Center and Artificial Intelligence, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy., Parazzini C; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Tonduti D; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Italy; and., Tartara E; Epilepsy Center, IRCCS Mondino Foundation, ERN Epicare Full Member, Pavia, Italy., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy., Errichiello E; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy.
Source: Neurology. Genetics [Neurol Genet] 2026 May 12; Vol. 12 (3), pp. e200395. Date of Electronic Publication: 2026 May 12 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
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  Data: KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.
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  Data: <searchLink fieldCode="AU" term="%22Politano+D%22">Politano D</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Orcesi+S%22">Orcesi S</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Rognone+E%22">Rognone E</searchLink>; Advanced Imaging Center and Artificial Intelligence, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Italy.; Advanced Imaging Center and Artificial Intelligence, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Parazzini+C%22">Parazzini C</searchLink>; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Italy; and.<br /><searchLink fieldCode="AU" term="%22Tartara+E%22">Tartara E</searchLink>; Epilepsy Center, IRCCS Mondino Foundation, ERN Epicare Full Member, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Errichiello+E%22">Errichiello E</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2026 May 12; Vol. 12 (3), pp. e200395. <i>Date of Electronic Publication: </i>2026 May 12 (<i>Print Publication: </i>2026).
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