Associated Papers
Seizure evolution in a mouse model of West syndrome involves complex and time-dependent synapse remodeling, gliosis and alterations in lipid metabolism.
Ma R et al.
Plos Biology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
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Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models.
Ma R et al.
Brain & Development, 2025
The WAVE complex in developmental and adulthood brain disorders.
Kim HG et al.
Experimental & Molecular Medicine, 2025
Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.
Xie S et al.
Protein Science : a Publication of the Protein Society, 2025
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Salokivi T et al.
American Journal of Medical Genetics. Part A, 2024
Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description.
Da Silva Cardoso J et al.
Cureus, 2023
CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
Kang M et al.
Annals of Neurology, 2023
Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
Biembengut ÍV et al.
Molecular Biology Reports, 2021
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Begemann A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.
Zhong M et al.
Medicine, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Zweier M et al.
European Journal of Human Genetics : Ejhg, 2019
Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy.
Zhang Y et al.
Bmb Reports, 2019
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Nakashima M et al.
Annals of Neurology, 2018
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