Autosomal dominant neurodevelopmental disorders associated with <italic>KIF1A</italic> gene variants in 6 pediatric patients
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine
Link
https://engine.scichina.com/doi/pdf/F08B48887EF740268B2323E48DB23540
Reference33 articles.
1. LEE J R, SHIN H. Characterization of the movement of the kinesin motor KIF1A in living cultured neurons. J Biol Chem, 2003, 278: 2624-2629.
2. NEMANI T, STEEL D, KALIAKATSOS M. KIF1A-related disorders in children: a wide spectrum of central and peripheral nervous system involvement. J Peripher Nerv Syst, 2020, 25: 117-124.
3. PENNINGS M, SCHOUTEN M I, VAN GAALEN J. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Eur J Hum Genet, 2020, 28: 40-49.
4. RIVIÈRE J B, RAMALINGAM S, LAVASTRE V. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet, 2011, 89: 219-230.
5. XU Gang, LI Jianwei, DENG Zhanjin, et al. Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30[J]. Chinese Journal of Medical Genetics, 2023, 40(4): 419-422. (in Chinese)..
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