developmental and epileptic encephalopathy 31A

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.

Signs and symptoms

• Absent speech
• Global developmental delay
• Hypotonia
• Epileptic spasm
• Epileptic encephalopathy
• Intellectual disability
• Inability to walk
• Hypsarrhythmia
• Atypical absence seizure
• Tonic seizure

Also known as: DEE31; DEE31A; developmental and epileptic encephalopathy 31; early infantile epileptic encephalopathy 31