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Diagnostic criteria for PCDH19 clustering epilepsy

Diagnostic criteria for PCDH19 clustering epilepsy
  Mandatory Alerts Exclusionary
Seizures
  • Focal seizures (fearful screaming typical) and tonic-clonic seizures, in clusters; may be triggered by fever
  • Prolonged focal clonic (hemiclonic) seizures in infancy (consider Dravet)
  • No clustering
  
EEG  
  • Absence of epileptiform discharges (which is usually focal, but rarely may be generalized)
  
Age at seizure onset
  • 1.5 to 60 months in females; 5 to 96 months in males
    
Other testing (eg, genetics)
  • PCDH19 pathogenic variant
    
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
Possible evolving syndrome: This syndrome should be considered in an infant girl who presents with a first cluster of febrile seizures
Syndrome without laboratory confirmation: In resource-limited regions, PCDH19 clustering epilepsy could be provisionally diagnosed without confirmatory genetic testing, specifically in the setting of a family history suggestive of X-linked dominant inheritance with male sparing
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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