Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).
Ruiz-Reig N et al.
Neural Regeneration Research, 2024
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Hatano M et al.
American Journal of Medical Genetics. Part A, 2021
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Broix L et al.
Human Molecular Genetics, 2018
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Tian G et al.
Molecular Genetics & Genomic Medicine, 2016
Modeling Neurodevelopmental Disorders and Epilepsy Caused by Loss of Function of kif2a in Zebrafish.
Partoens M et al.
Eneuro, 0
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