Clinical characteristics and genetic analysis of KCNQ2 gene mutation associated with a spectrum of epilepsy
Objective To analyze the relationship between the location and type of KCNQ2 gene variants and different clinical pheno-types in children with epilepsy due to KCNQ2 gene mutations,and provide help for the precise treatment,the medication regimen,and the prognostic evaluation of children.Methods Clinical data and genetic information of children who were admitted as outpatients and inpatients to Shanxi Children's Hospital from October 2021 to March 2024 and identified as KCNQ2 gene mutations were collected to retrospectively analyze their genotypes and clinical characteristics.Results Of 14 children with epilepsy due to KCNQ2 gene mutation,12 had single nucleotide variants(SNVs)and two had copy number variants.Seven patients had inherited variants,and seven patients had de novo variants.Of the 12 children with SNVs,five were newly reported variants.Among the 14 cases,the age of the first seizure ranged from 1 d to 6 months.Focal seizure was the most common form of seizure.Eight cases had abnormal EEG and five cases had abnormal brain MRI.The seizures of 12 SNV children were effectively controlled by sodium channel blockers.Conclusion Five new single nucleotide variants are reported in this study,expanding the genetic spectrum of KCNQ2 gene-associated epilepsy.Sodium channel blockers are effective in seizure control for these patients with KCNQ2 gene mutation.Analyzing the relationship between KCNQ2 gene mutation and clinical phenotype can provide help for the early treatment selection and the prognosis evaluation of children.
self-limited(familial)epilepsyKCNQ2-related developmental and epileptic encephalopathy(KCNQ2-DEE)KCNQ2 genesingle nucleotide variantsnewborn