Retrospective analysis of clinical features, seizure semiology and video-EEG data.
All patients showed characteristic craniofacial features, mental retardation, and diffuse hypotonia and apnea. Seizure semiology included focal motor, 卤secondary generalized tonic clonic and tonic events. All had histories of status epilepticus; three showed clustering of their habitual seizures. Assessment of apnea was complicated by the presence of multiple other potential causes including obesity, reflux, respiratory, and cardiac problems Epileptic apneas were confirmed in one child by video-telemetry. In three other children, an epileptic basis for apneas was inferred from their clinical histories and treatment response supported by EEG findings. In three children, epileptiform discharges occurred over fronto-centro-temporal regions.
Epileptic apnea is a feature of 1p36 deletion syndrome, though episodic apnea is multifactorial in these children, and may need repeated re-appraisal.