KCNQ2-DEE: developmental or epileptic encephalopathy?

ABSTRACT:

Objective

KCNQ2-associated developmental and epileptic encephalopathies (DEE) present with seizures and developmental impairments. The relation between seizures and functional impairments in affected children and the relation of a specific genetic variant to seizure control remains unknown.

Methods

Parents of children with documented KCNQ2 variants who participated in a structured, online natural history survey provided information about seizure history, functional mobility, hand use, communication function, and feeding independence. Bivariate analyses were performed with nonparametric methods and logistic regression was used for multivariable analyses.

Results

Thirty-nine children (20, 51% girls, median age 4.5 years, interquartile range (IQR) 1.9-19.3) had a median

SUBMITTER: Berg AT 

PROVIDER: S-EPMC7951099 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature