KCNQ2‐DEE: developmental or epileptic encephalopathy?

Autor: Anne T. Berg, Sonal Mahida, Annapurna Poduri
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 666-676 (2021)
Druh dokumentu: article
ISSN: 2328-9503
DOI: 10.1002/acn3.51316
Popis: 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 age of seizure onset of 1 day (IQR 1—3 days). The most common seizure types were bilateral tonic‐clonic (N = 72, 28%) and bilateral tonic (N = 13, 33%). Time since last seizure was
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