Diagnostic criteria for KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE)

Diagnostic criteria for KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE)

	Mandatory	Alerts	Exclusionary
Seizures	Tonic, myoclonic, and/or focal seizures
EEG	Either burst suppression or multifocal discharges; diffuse slowing
Age at onset	<3 months	Onset beyond the first week of life (corrected gestational age)
Neurologic examination		Normal neurologic examination
Comorbidities	Neurodevelopmental slowing/encephalopathy is apparent at seizure onset
Other testing (eg, genetics)	Pathogenic variant in KCNQ2
Course of illness	Abnormal neurodevelopment, with profound to moderate impairment
Is MRI or ictal EEG required for diagnosis? An MRI is not required for diagnosis but is strongly recommended to exclude other causes An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, KCNQ2-DEE cannot be diagnosed without genetic testing

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 14, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Diagnostic criteria for KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE)