familial adult myoclonic epilepsy 5

A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Tremor
• Myoclonus
• Focal impaired awareness seizure
• Interictal epileptiform activity
• Focal sensory seizure with visual features
• Hippocampal sclerosis

Also known as: FAME5; FCMTE5; early-onset epilepsy 5 with or without developmental delay; familial cortical myoclonic tremor and epilepsy 5