developmental and epileptic encephalopathy 116

A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chrom

A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.

Signs and symptoms

• Generalized-onset seizure
• Hypotonia
• Myoclonic seizure
• Profound global developmental delay
• Epileptic encephalopathy
• CNS hypomyelination
• Focal-onset seizure
• Bilateral tonic-clonic seizure
• Thin corpus callosum
• Dilation of Virchow-Robin spaces

Also known as: DEE116