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Article

[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].

Revista de neurologia - 16 Sept 2023

Ortiz-Ortigosa A, Calvo-Medina R, Ruiz-García C, Vera-Medialdea R, Ramos-Fernández J M

Abstract excerpt

INTRODUCTION: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules....

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Identifiers

PMID: 37668235
DOI: 10.33588/rn.7706.2023185
PMCID: PMC10662185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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