developmental and epileptic encephalopathy 114

A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_mater

A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11.

Signs and symptoms

• Hypotonia
• Sleep disturbance
• Motor delay
• Intellectual disability
• Delayed speech and language development
• Developmental regression
• Global developmental delay
• Bilateral tonic-clonic seizure
• Focal impaired awareness seizure
• Myoclonic seizure