Diagnostic criteria for self-limited (familial) infantile epilepsy

	Mandatory	Alerts	Exclusionary
Seizures	Focal seizures occur with behavioral arrest, impaired awareness, automatisms, head/eye version, and clonic movements (often alternating from one side to the other and progressing to a hemiclonic or focal to bilateral tonic-clonic seizure). Seizures are usually brief (<3 min).	Prolonged or focal clonic (hemiclonic) seizures (>10 min)	Epileptic spasms Myoclonic seizures Sequential seizures Tonic seizures
EEG		Interictal: Mild background slowing	Interictal: Persistent focal slowing or moderate or greater background slowing not limited to the postictal period Hypsarhythmia
Age at onset		Onset 18 to 36 months of age	Age at onset <1 month or >36 months
Development at onset		Mild developmental delay	Moderate to profound delay Neurocognitive regression
Neurologic examination		Significant neurologic examination abnormalities, excluding incidental findings
Imaging			Causal lesion on brain MRI
Other testing (eg, genetics)		Lack of pathogenic variants found in PRRT2, SCN2A, KCNQ2, or KCNQ3 OR Lack of family history suggesting autosomal dominant inheritance with incomplete penetrance
Course of illness		Lack of remission by late childhood	Neurocognitive regression with myoclonic seizures, ataxia, spasticity
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, SeLIE can be diagnosed without EEG and MRI in an infant with a family history suggestive of familial SeLIE 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 SeLIE, and careful follow-up of the patient is required to ensure their course is also consistent with this syndrome.

EEG: electroencephalography; MRI: magnetic resonance imaging; SeLIE: self-limited (familial) infantile 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.

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Diagnostic criteria for self-limited (familial) infantile epilepsy