Main clinical features
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neurologic disorder characterized by onset of refractory seizures in the first months of life; severe global developmental delay, and additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies
seizure onset occurred between 2.5 months and 7 months of age and varied from treatable seizures to recurrent episodes of status epilepticus (PMID: 32588908))
skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia |