Diagnostic criteria for CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE)

Diagnostic criteria for CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE)

	Mandatory	Alerts	Exclusionary
Seizures	Seizures, which may include tonic seizures, epileptic spasms, generalized tonic-clonic seizures, and/or focal seizures Hyperkinetic-tonic-spasms sequence seizures are characteristic but not seen in all cases	Absence of epileptic spasms in the first year of life
EEG		Normal EEG background without interictal discharges after 4 months of age
Age at onset		Onset of epilepsy >3 months
Development at onset		Normal development prior to seizure onset
Neurologic examination		Normal tone Lack of encephalopathy
Other testing (eg, genetics)	Pathogenic variant in the CDKL5 gene (X-linked but females outnumber males by 4:1)
Course of illness	Profound to severe intellectual disability Drug-resistant epilepsy
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, CDKL5-DEE cannot be diagnosed without confirmatory 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 CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE)