Diagnostic criteria for PCDH19 clustering epilepsy

Diagnostic criteria for PCDH19 clustering epilepsy

	Mandatory	Alerts	Exclusionary
Seizures	Focal seizures (fearful screaming typical) and tonic-clonic seizures, in clusters; may be triggered by fever	Prolonged focal clonic (hemiclonic) seizures in infancy (consider Dravet) No clustering
EEG		Absence of epileptiform discharges (which is usually focal, but rarely may be generalized)
Age at seizure onset	1.5 to 60 months in females; 5 to 96 months in males
Other testing (eg, genetics)	PCDH19 pathogenic variant
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
Possible evolving syndrome: This syndrome should be considered in an infant girl who presents with a first cluster of febrile seizures
Syndrome without laboratory confirmation: In resource-limited regions, PCDH19 clustering epilepsy could be provisionally diagnosed without confirmatory genetic testing, specifically in the setting of a family history suggestive of X-linked dominant inheritance with male sparing

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 PCDH19 clustering epilepsy