Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report

摘要

The tracking EEG result of the patient. a At 2 years 1 months, the EEG result of the patient during wakefulness showed generalized myoclonic seizures with generalized slow spike-and-wave with high amplitude. b-d The EEG result of the patient at 2.5 years old. Sleeping myoclonic seizures accompanied by bursts of generalized slow spike-and-wave (b) and waken epileptic spasms accompanied by generalized slow waves of high amplitude and fast waves of low amplitude (c) were detected. Fragmented hypsarrhythmic waves were observed during the interval between spasms (d). e Irregular slow spike-and-waves were presented during the atypical absence seizures of the waken patient detected in the last follow-up EEG