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Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.

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Title: Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.
Authors: Kulosik L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schanze I; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Al-Awam BS; Department of Pediatrics, College of Medicine, King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fuchs A; Epilepsy Center Berlin-Brandenburg, Hospital Königin-Elisabeth-Herzberge, Berlin, Germany., Goldenberg A; University Rouen Normandie, Inserm U1245, Normandie University and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Saugier-Veber P; University Rouen Normandie, Inserm U1245, Normandie University and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Yassaee VR; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.wegscheider@medizin.uni-leipzig.de.
Source: Pediatric neurology [Pediatr Neurol] 2026 Jun; Vol. 179, pp. 37-44. Date of Electronic Publication: 2026 Mar 11.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Kulosik+L%22">Kulosik L</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Schanze+I%22">Schanze I</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zacher+P%22">Zacher P</searchLink>; Epilepsy Center Kleinwachau, Radeberg, Germany.<br /><searchLink fieldCode="AU" term="%22Al-Awam+BS%22">Al-Awam BS</searchLink>; Department of Pediatrics, College of Medicine, King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Srinivasan+VM%22">Srinivasan VM</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Fuchs+A%22">Fuchs A</searchLink>; Epilepsy Center Berlin-Brandenburg, Hospital Königin-Elisabeth-Herzberge, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; University Rouen Normandie, Inserm U1245, Normandie University and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; University Rouen Normandie, Inserm U1245, Normandie University and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Hashemi-Gorji+F%22">Hashemi-Gorji F</searchLink>; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Yassaee+VR%22">Yassaee VR</searchLink>; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Sticht+H%22">Sticht H</searchLink>; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.wegscheider@medizin.uni-leipzig.de.
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  Data: <searchLink fieldCode="JN" term="%228508183%22">Pediatric neurology</searchLink> [Pediatr Neurol] 2026 Jun; Vol. 179, pp. 37-44. <i>Date of Electronic Publication: </i>2026 Mar 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science+Publishing%22">Elsevier Science Publishing </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8508183 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-5150 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208878994%22">08878994 </searchLink><i>NLM ISO Abbreviation: </i>Pediatr Neurol <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.pediatrneurol.2026.03.004
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        Text: English
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              Text: 2026 Jun
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