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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.

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