| Main clinical features
|
progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres
profound mental retardation, microcephaly and active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs)
Brain MRI showed microcephaly secondary to apparent neurodegeneration, hypomyelination or delayed myelination, thin corpus callosum and reduced white matter, moderately enlarged cerebral ventricles, small cerebellar vermis, and mild atrophy of the cerebellar hemispheres |