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
Description
ISSN:1873-5150
DOI:10.1016/j.pediatrneurol.2026.03.004