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Diagnostic criteria for KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE)

Diagnostic criteria for KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE)
  Mandatory Alerts Exclusionary
Seizures
  • Tonic, myoclonic, and/or focal seizures
    
EEG
  • Either burst suppression or multifocal discharges; diffuse slowing
    
Age at onset
  • <3 months
  • Onset beyond the first week of life (corrected gestational age)
  
Neurologic examination  
  • Normal neurologic examination
  
Comorbidities
  • Neurodevelopmental slowing/encephalopathy is apparent at seizure onset
    
Other testing (eg, genetics)
  • Pathogenic variant in KCNQ2
    
Course of illness
  • Abnormal neurodevelopment, with profound to moderate impairment
    
Is MRI or ictal EEG required for diagnosis?
  • An MRI is not required for diagnosis but is strongly recommended to exclude other causes
  • An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, KCNQ2-DEE cannot be diagnosed without genetic testing
EEG: electroencephalography; MRI: magnetic resonance imaging.
From: Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63:1349. Copyright © 2022 The Authors. Available at: https://onlinelibrary.wiley.com/doi/10.1111/epi.17239 (Accessed on November 14, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.
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