episodic ataxia type 1; episodic ataxia with myokymia; paroxysmal ataxia with neuromyotonia

Genetics

• autosomal dominant
• associated with defects in KCNA1 are the cause of:
  • episodic ataxia type 1

Clinical manifestations

• brief episodes of ataxia & dysarthria
• neurological examination during & between attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerves
• nystagmus is absent

More general terms

• episodic ataxia

Database

• OMIM: https://mirror.omim.org/entry/160120
• OMIM: https://mirror.omim.org/entry/176260