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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

Dídac Casas-Alba1, Anna Aguilar2, Itziar Alonso3

  • 1Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona University, Barcelona, Spain.

Pediatric Neurology
|April 26, 2023
PubMed

Insights

Epileptic activity partially correlates with developmental outcomes in KCNQ2-related epilepsy. This finding is crucial for selecting clinical endpoints in future KCNQ2 epilepsy trials.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • KCNQ2-related epilepsy encompasses self-limited (familial) neonatal epilepsy (S(F)NE) and developmental and epileptic encephalopathy (DEE).
  • Understanding the relationship between epileptic activity and developmental trajectory is vital for optimizing clinical trial endpoints.

Purpose of the Study:

  • To characterize a cohort of pediatric patients with KCNQ2-related epilepsy.
  • To investigate the association between specific epileptic activity patterns and developmental outcomes.

Main Methods:

  • Retrospective cohort study of 44 children with KCNQ2 pathogenic variants.
  • Clinical, therapeutic, and genetic data were collected; EEG recordings were reviewed.
  • Developmental outcomes assessed using the Gross Motor Function Classification System (GMFCS) and Vineland Adaptive Behavior Composite (ABC) standard score.

Main Results:

  • Delayed seizure freedom was more common in DEE than S(F)NE.
  • Multifocal interictal epileptiform abnormalities at onset and disorganized background activity at follow-up were more frequent in DEE.
  • These EEG abnormalities correlated with poorer gross motor function (higher GMFCS) and adaptive behavior (lower ABC SS) in DEE patients.

Conclusions:

  • Epileptic activity, particularly EEG findings, shows a partial correlation with developmental outcomes in KCNQ2-related epilepsy.
  • These findings highlight the complexity of KCNQ2 encephalopathy and suggest that seizure control alone may not fully capture treatment efficacy.
Abstract

Keywords:
Developmental and epileptic encephalopathyGross Motor Function Classification SystemKCNQ2Self-limited (familial) neonatal epilepsyVineland Adaptive Behavior Scales

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