Diagnostic criteria for self-limited (familial) neonatal epilepsy

	Mandatory	Alerts	Exclusionary
Seizures	Seizures are characterized by focal tonic features at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may alternate sides from seizure to seizure, and may evolve to bilateral tonic or clonic seizures.	Clinical history suggestive of in utero seizures	Epileptic spasms Myoclonic seizures Generalized tonic seizures Generalized tonic-clonic 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			Onset after first month of age
Development at onset			Any degree of 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 gene associated with this syndrome, most commonly KCNQ2 or KCNQ3 OR Lack of family history suggesting AD inheritance with incomplete penetrance	Other acute symptomatic cause of seizures including intracranial infection, ischemic or hemorrhagic stroke, hypoxic-ischemic brain injury, significant metabolic disturbances
Course of illness		Mild neurodevelopmental delay long-term Lack of remission of epilepsy after 6 months of age 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, SeLNE can be diagnosed without EEG and MRI in a neonate with a family history suggestive of familial SeLNE 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 SeLNE, and careful follow-up of the patient is required to ensure their course is also consistent with this syndrome.

EEG: electroencephalography; AD: autosomal dominant; MRI: magnetic resonance imaging; SeLNE: self-limited neonatal epilepsy.

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 139183 Version 1.0

خرید پکیج

Diagnostic criteria for self-limited (familial) neonatal epilepsy