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Article

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

Pediatric neurology - 1 Jun 2026

Kulosik Luise, Schanze Ina, Zacher Pia, Al-Awam Bashayer S, Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Krey Ilona, Fuchs Alexander, Goldenberg Alice, Saugier-Veber Pascale, Hashemi-Gorji Farzad, Yassaee Vahid Reza, Zenker Martin, Sticht Heinrich, Jamra Rami Abou, Neuser Sonja

Abstract excerpt

BACKGROUND: Distinct, recurrent missense variants in KIF5C have previously been described in a small number of patients with cortical dysplasia and severe intellectual disability. We aimed to further characterize the phenotype associated with KIF5C variants, including truncating variants. METHODS: We analyzed ten newly identified individuals with disease-associated KIF5C variants and compared them to previously...

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Source

Identifiers

PMID: 41916258
DOI: 10.1016/j.pediatrneurol.2026.03.004

Genes

KIF5C

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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