myoclonic-atonic epilepsy

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in het

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.

Signs and symptoms

• Generalized myoclonic-atonic seizure
• Intellectual disability
• Generalized non-motor (absence) seizure
• Global developmental delay
• Autistic behavior
• Eyelid myoclonus
• Atonic seizure
• Myoclonic seizure
• Attention deficit hyperactivity disorder
• Tremor

Also known as: EEOC; childhood onset epileptic encephalopathy