familial adult myoclonic epilepsy 2

A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in

A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.

Signs and symptoms

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

Also known as: ADCME; BAFME2; FAME2; FCMTE2; autosomal dominant cortical myoclonus and epilepsy