Mandatory | Alerts | Exclusionary | |
---|---|---|---|
Seizures | Myoclonic seizures | Generalised tonic-clonic status epilepticus Consistent focal features at seizure onset |
Myoclonic absence, atonic, tonic, atypical absence or focal seizures Myoclonic seizures predominantly/exclusively from sleep Myoclonic seizures exclusively with reading Cortical tremor with myoclonus |
EEG | 3-5.5Hz generalized spike- or poly-spike wave | Myoclonic event captured on EEG without spike- or poly-spike wave discharge Focal slowing or consistently focal epileptiform abnormality Generalised slow (<2.5Hz) spike-wave (measured at the beginning of a spike-wave discharge) Diffuse background slowing |
|
Age at onset | 8-9 or 25-40 years | <8 or >40 years | |
Development at onset | Mild intellectual impairment | Moderate or greater intellectual impairment | |
Neurological exam | Abnormal exam | ||
Imaging | Abnormal, potentially relevant | ||
Course of illness | Progressive cognitive decline Progressive myoclonic seizures with impaired fine motor function |
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Are MRI or ictal EEG required for diagnosis? An MRI is not required for diagnosis An ictal EEG is not required |
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Syndrome without laboratory confirmation: in resource-limited regions, this syndrome can be diagnosed in patients without alerts who meet all other mandatory and exclusionary criteria |
NOTE Alert criteria are absent in the vast majority of patients with the syndrome, but rarely can be seen. Their presence should result in caution in diagnosing the syndrome and consideration of other conditions