Genetics:
Autosomal dominant
Kva1.1 KCNA1 chr. 12q13
Clinical features:
Paroxysmal cerebellar ataxia, seconds-minutes
Triggers: exertion, stress, startle
Associated with:
- Myokymia/neuromyotonia
- Cramps
Findings on investigations:
Electrophysiology/Pathogenesis:
- EMG: spontaneous discharges (Myokymia/neuromyotonia)
Treatment:
Acetazolamide or Carbamazepine CBZ