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

The CYFIP2 gene homepage

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

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

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

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

CYFIP2 cytoplasmic FMR1 interacting protein 2

The Human Protein Atlas: CYFIP2

Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2

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

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

CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2

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

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

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

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

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

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

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

Most Commonly Prescribed Drug for Infantile Epilepsy May Also Be Most Effective

Cannabidiol Efficacy Confirmed in Lennox-Gastaut Syndrome

Epileptic Encephalopathies: New Genes and New Pathways

Levetiracetam Suppresses the Infiltration of Neutrophils and Monocytes and Downregulates Many Inflammatory Cytokines during Epileptogenesis in Pilocarpine-Induced Status Epilepticus Mice

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

Acth treatment of infantile spasms: Mechanisms of its effects in modulation of neuronal excitability

Clinical Trials

GeneMatcher

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medRxiv

Preliminary publications (preprints that have not yet been peer reviewed)