Abstract

BackgroundThe clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish.ObjectiveTo explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder.MethodsInfants with KCNQ2-related disorder were retrospectively enrolled in our study in Children’s Hospital of Fudan University in China from Jan 2015 to Mar 2020. All infants were older than age of 12 months at time of follow-up, and assessed by Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of intelligence-fourth edition (WPPSI-IV), then divided into three groups based on scores of BSID-III or WPPSI-IV: normal group, mild impairment group, encephalopathy group. We collected demographic variables, clinical characteristics, neuroimaging data. Considered variables include gender, gestational age, birth weight, age of the initial seizures, early interictal VEEG, variant location, delivery type. Variables predicting prognosis were identified using multivariate ordinal logistic regression analysis.ResultsA total of 52 infants were selected in this study. Early interictal video-electro-encephalography (VEEG) (β = 2.77, 1.20 to 4.34, P = 0.001), and variant location (β = 2.77, 0.03 to 5.5, P = 0.048) were independent risk factors for prognosis. The worse the early interictal VEEG, the worse the prognosis. Patients with variants located in the pore-lining domain or S4 segment are more likely to have a poor prognosis.ConclusionsThe integration of early initial VEEG and variant location can predict prognosis. An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome.

Highlights

  • The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7

  • An individual whose KCNQ2 variant located in voltage sensor, the pore domain, with worse early initial VEEG background, often had an adverse outcome

  • Birth weight, and age of the initial seizures as continuous variables, early interictal VEEG as ordinal variables which is analyzed as continuous data, and variant location, and delivery type as categorical variables

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Summary

Introduction

The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. KCNQ2-related disorders represent a broad continuum of epileptic phenotypes caused by a heterozygous variant in KCNQ2. Xu et al BMC Pediatr (2021) 21:477 features of KCNQ2-related disorders range from mild forms, as benign familial neonatal seizures 1 (BFNS1, [MIM:121200]), to very severe ones, as early infantile epileptic encephalopathy 7 (EIEE7, [MIM:613720]). KCNQ2-related disorder is generally characterized by multiple daily seizures that usually occurs between the first to eighth day of life [1,2,3,4,5,6,7,8,9,10,11,12], rare cases at few months of life [4,5,6,7]. Individuals with identical pathogenic variants appear similar clinical features and developmental outcomes, but some cases exhibit clinical heterogeneity.

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