familial adult myoclonic epilepsy 1

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.

Signs and symptoms

• Giant somatosensory evoked potentials
• Enhancement of the C-reflex
• Bilateral tonic-clonic seizure
• Generalized myoclonic seizure
• Jerk-locked premyoclonus spikes
• EEG with photoparoxysmal response
• Tremor
• EEG with irregular generalized spike and wave complexes
• Intellectual disability

Also known as: BAFME1; FAME1; FCMTE1; benign adult familial myoclonic epilepsy 1; familial cortical myoclonic tremor and epilepsy 1