Conditions / Genetic
familial adult myoclonic epilepsy 4
info · Genetic
A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1.
Signs and symptoms
- Enhancement of the C-reflex
- Jerk-locked premyoclonus spikes
- Tremor
- Myoclonus
- EEG with polyspike wave complexes
- Seizure
- Bilateral tonic-clonic seizure
- Intellectual disability
Also known as: FAME4; FCMTE4; familial cortical myoclonic tremor and epilepsy 4