generalized epilepsy & paroxysmal dyskinesia

Genetics

• associated with defects in KCNMA1

Clinical manifestations

• coexistence of epilepsy & paroxysmal dyskinesia
• absence seizures
• generalized tonic-clonic seizures
• paroxysmal nonkinesigenic dyskinesia
• involuntary dystonic or choreiform movements
• onset is usually in childhood
• patients may have seizures only, dyskinesia only, or both

More general terms

• genetic syndrome (multisystem disorder)
• epilepsy
• paroxysmal dyskinesia

Database

• OMIM: https://mirror.omim.org/entry/609446