ﺑﺎﺯﮔﺸﺖ ﺑﻪ ﺻﻔﺤﻪ ﻗﺒﻠﯽ
خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -24 مورد

Diagnostic criteria for self-limited familial neonatal-infantile epilepsy

Diagnostic criteria for self-limited familial neonatal-infantile epilepsy
  Mandatory Alerts Exclusionary
Seizures
  • Focal tonic seizures with head and eye deviation, followed by other tonic and clonic features and may evolve to bilateral tonic clonic seizures
  • Sequential seizures
  • Epileptic spasms
  • Myoclonic seizures
EEG  
  • Interictal: Mild background slowing
  • Interictal:
    • Persistent focal slowing or moderate or greater background slowing not limited to the postictal period
    • Burst suppression pattern
    • Hypsarhythmia
  • Ictal: Lack of EEG correlate with clinical symptoms
Age at onset
  • 1 day to 23 months
    
Development at onset  
  • A history of prior acute symptomatic seizures including intracranial infection, ischemic or hemorrhagic stroke, hypoxic-ischemic brain injury, significant metabolic disturbances
  • Encephalopathy
Neurologic examination  
  • Significant neurologic examination abnormalities, excluding incidental findings
  
Imaging    
  • Neuroimaging documenting a causal lesion for seizures
Other testing (eg, genetics)  
  • Lack of pathogenic variant in genes associated with this syndrome (usually SCN2A)
  
Course of illness  
  • Mild neurodevelopmental delay long-term
  • Lack of remission of epilepsy by age 2 years
  • Drug-resistant epilepsy
  • Moderate to severe neurodevelopmental disability
Are MRI or ictal EEG required for diagnosis?
  • A nonlesional MRI is required to diagnose this syndrome
  • An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, self-limited neonatal-infantile epilepsy (SeLFNIE) can be diagnosed without EEG and MRI in a neonate with a family history suggestive of familial self-limited neonatal-infantile epilepsy who meets all other mandatory and exclusionary clinical criteria and has no alerts. However, the clinical history of affected family members should be consistent with the expected course for SeLFNIE, and careful follow-up of the patient is required to ensure that their course is also consistent with this syndrome.
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 10, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.
Graphic 139189 Version 1.0