developmental and epileptic encephalopathy 81

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopa

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2.

Signs and symptoms

• Epicanthus
• Downslanted palpebral fissures
• Profound intellectual disability
• Severe muscular hypotonia
• Global developmental delay
• EEG with burst suppression
• Peripheral neuropathy
• Infantile spasms
• Sensorineural hearing impairment
• Myopathic facies

Also known as: DEE81; early infantile epileptic encephalopathy 81