A qualitative study of emergency management ability of anesthetist nurses.

The cytoplasmic fragile X messenger ribonucleoprotein 1 interacting protein 2 (, MIM 606323) gene encodes a component of the WASP‐family verprolin‐homologous protein (WAVE) regulatory complex, which is involved in actin dynamics and is critical for synaptic plasticity. plays a pivotal role in regulating actin dynamics through its role in the WAVE regulatory complex (WRC) []. Pathogenic variants were first reported in 2018 and have since been discovered to cause developmental and epileptic encephalopathy (DEE) type 65 []. DEE‐65 is characterized by early‐onset intractable epilepsy, including epileptic spasms and psychomotor developmental delay. Of the pathogenic variants reported in , the Arg87Cys variant is common and is consistently associated with a DEE phenotype [, , , , ]. This Arg87 hotspot variant is situated in a critical binding site within the WRC. Disease‐associated variants at this position disrupt WRC regulation, leading to inhibition of and constant, uncontrolled WRC activation [, ]. Patients harboring the Arg87Cys variant typically present with seizures in the first year of life, progressing to intractable epilepsy, often with infantile epileptic spasms with associated developmental regression [, , , ]. It has been proposed that variants affecting the Arg87 residue result in a toxic gain‐of‐function mechanism, likely contributing to the profound phenotype [, ]. Although there are currently no targeted treatments or genetic therapies for ‐related DEE, genetic therapies for other DEEs are being investigated, including the antisense oligonucleotide therapy Zorevunersen for ‐associated Dravet syndrome [, ]. Zorevunersen clinical trials in infants and young children show preliminary evidence of reduced seizure frequency and improved cognition and behavior []. Genetic therapies have also been beneficial in neurodegenerative disorders [, , , ]. Efforts are underway to identify Arg87Cys‐specific ligands as potential therapeutics []. Positive results in other DEEs and neurodegenerative disorders highlight the potential benefit of investigating genetic therapies and other targeted treatments in ‐related DEE, and place importance on the timing of these treatments.