Diagnostic criteria for myoclonic epilepsy in infancy

	Mandatory	Alerts	Exclusionary
Seizures	Myoclonic seizures	Afebrile generalized tonic-clonic seizure or generalized clonic at time of epilepsy onset	Any of the following seizure types: Absence seizures Atonic seizures Epileptic spasms Focal impaired awareness seizures Focal clonic (hemiclonic) seizures Myoclonic-absence seizures Tonic seizures
EEG	Normal background	Interictal: Lack of generalized spike-wave discharge on sleep recording PPR at low frequency photic stimulation (suggest CLN2 disease)	Ictal: Recorded myoclonic event without EEG correlate Interictal: Hypsarhythmia Generalized slow spike-wave (<2.5 Hz)
Age at onset			Age at onset of myoclonic seizures ≤4 months or >3 years
Development at onset		Speech delay at time of diagnosis Moderate to profound ID
Neurologic examination		Significant neurologic examination abnormalities, excluding incidental findings	Dysmorphism or other congenital anomalies (suggests chromosomal disorder)
Imaging			Significant neuroimaging abnormalities
Other testing (eg, genetics)			Low CSF glucose or pathogenic SLC2A1 variants (Glut1DS)
Course of illness			Neurocognitive regression
Are MRI or ictal EEG required for diagnosis? A nonlesional MRI is required for diagnosis An ictal EEG is not required for diagnosis but should be strongly considered if the interictal sleep recording does not show generalized spike-wave to confirm that myoclonus is epileptic
Syndrome without laboratory confirmation: In resource-limited regions, at a minimum, a sleep EEG showing generalized spike-wave is required to make this diagnosis

EEG: electroencephalography; PPR: photoparoxysmal response; ID: intellectual disability; CSF: cerebrospinal fluid.

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 11, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Diagnostic criteria for myoclonic epilepsy in infancy