https://humandiseasegenes.nl/cyfip2/professionals/research-collaboration

This website also offers helpful CYFIP2 information for families.

Impact of the CYFIP2 R87C variant in a human neuronal model in vitro

The WAVE complex in developmental and adulthood brain disorders

Longitudinal deep phenotyping in a mouse model of West syndrome reveals temporal dynamics of synapse remodeling, gliosis, and proteomic and lipidomic changes during seizure evolution

Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility

Unravelling the role of CYFIP2 and R87C mutation in "in vitro" neurodevelopment

Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex

Cyfip2 mediates sensorimotor integration of visual input through Rac1-dependent actin remodeling

Functional impact of CYFIP2 RNA editing on actin regulation, axon growth, and spinogenesis

Seizure evolution in a mouse model of West syndrome involves complex and time-dependent synapse remodeling, gliosis and alterations in lipid metabolism

Understanding the Natural History of cyfip2-related Epilepsy

185. Case of CYFIP2-Associated Epileptic Encephalopathy – A Window of Hope

Identification of CYFIP2 Arg87Cys Ligands via In Silico and In Vitro Approaches

Cyfip2 controls the acoustic startle threshold through FMRP, actin polymerization, and GABAB receptor function

Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton

Cell-autonomous reduction of CYFIP2 changes dendrite length, dendritic protrusion morphology, and inhibitory synapse density in the hippocampal CA1 pyramidal neurons of 17-month-old mice

Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models

Neurodevelopmental Disorders and the CYFIP2 Gene: Linking Visual Acuity

De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis 

Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex

Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description

RNA editing of CYFIP2 regulates actin related cellular migration and neuronal development in vitro

Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity

CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy

Expression of mRNA encoding two gain-of-function cyfip2 variants associated with DEE65 results in spontaneous seizures in Xenopus laevis tadpoles

Cannabidiol Successful Therapy for Developmental and Epileptic Encephalopathy related to CYFIP2

Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2

Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain

Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice

Altered presynaptic function and number of mitochondria in the medial prefrontal cortex of adult Cyfip2 heterozygous mice

Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy

Smaller Body Size, Early Postnatal Lethality, and Cortical Extracellular Matrix-Related Gene Expression Changes of Cyfip2-Null Embryonic Mice

Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

A Cyfip2-Dependent Excitatory Interneuron Pathway Establishes the Innate Startle Threshold

Orchestration of synaptic functions by WAVE regulatory complex-mediated actin reorganization

WAVE regulatory complex

Regulation of actin filament assembly by Arp2/3 complex and formins

Actin polymerization and depolymerization in developing vertebrates

Epileptic Encephalopathy in Infants and Children

Epileptic Encephalopathies: New Genes and New Pathways

Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy

Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity

Treatment of infantile spasms

Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort

Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

Adrenocorticotropic Hormone (ACTH)-Induced Dyskinesias in Infantile Spasms: A Video Case Report

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

Evaluating human mutation databases for “treatability” using patient-customized therapy

West syndrome: a comprehensive review

Association of early-onset epileptic encephalopathy with involuntary
movements – Case series and literature review

Clinical Trials

GeneMatcher

GeneMatcher is a website that connects people interested in specific gene types. You do not need to be a physician or medical researcher to register on this site! Families are able to register and search for interested researchers.

Medrxiv

MyGene2