familial adult myoclonic epilepsy 3

info · Genetic

A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.

Signs and symptoms

Tremor
Bilateral tonic-clonic seizure
Gait disturbance
Enhancement of the C-reflex
Jerk-locked premyoclonus spikes
EEG with photoparoxysmal response
Giant somatosensory evoked potentials
Focal-onset seizure
Myoclonus

Also known as: FAME3; FCMTE3; familial cortical myoclonic tremor and epilepsy 3