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.

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Diagnostic criteria for self-limited familial neonatal-infantile epilepsy