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

20260 citationsJournal Articlehybrid Open Access

Authors

Luise Kulosik · Leipzig University

Ina Schanze · University Hospital Magdeburg

Pia Zacher · Epilepsiezentrum Kleinwachau Gemeinnützige

Bashayer Al-Awam · King Fahd Hospital of the University

Varunvenkat M. Srinivasan · Indira Gandhi Institute of Child Health

Vykuntaraju K. Gowda · Indira Gandhi Institute of Child Health

Ilona Krey

Abstract

Our findings suggest a genotype-phenotype correlation in KIF5C, with truncating variants associated with a milder phenotype compared to missense variants.

Topics & Keywords

Genomics and Rare Diseases Autoimmune Neurological Disorders and Treatments Epilepsy research and treatment

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Pediatric Neurology

Volume 179, pp. 37-44

DOI: 10.1016/j.pediatrneurol.2026.03.004

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