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BMC Pediatrics

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Open Access 01-12-2021 | Encephalopathy | Research

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Authors: Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou

Published in: BMC Pediatrics | Issue 1/2021

Abstract

Background

The 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.

Objective

To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder.

Methods

Infants 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.

Results

A 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.

Conclusions

The 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.

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Title: Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder
Authors: Yan Xu
Ya-lan Dou
Xiang Chen
Xin-ran Dong
Xin-hua Wang
Bing-bing Wu
Guo-qiang Cheng
Yuan-feng Zhou
Publication date: 01-12-2021
Publisher: BioMed Central
Keyword: Encephalopathy
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02946-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Abstract

Background

Objective

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Objective

Methods

Results

Conclusions

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