developmental and epileptic encephalopathy 57

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that h

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

Signs and symptoms

• Hypsarrhythmia
• Seizure
• Staring gaze
• Hypotonia
• Profound global developmental delay
• Thin corpus callosum
• Epileptic spasm
• Reduced cerebral white matter volume
• Tonic seizure
• Epileptic encephalopathy

Also known as: DEE57; early infantile epileptic encephalopathy 57