We report on the case of a 10-year-old Iraqi Kurdish boy who developed recurrent short-lived attacks of severe instability of stance and gait, vertigo, nausea, and vomiting. Examination revealed peri-oral myokymia. Histories of fever, head trauma, seizures, migraine, or illicit drug abuse were not obtained. Needle electromyography revealed myokymic discharges. KCNA1 missense G1210A genetic mutation was found. The boys parents and grandparents did not harbour this mutation. The patient had sporadic episodic ataxia type 1 and acetazolamide was prescribed.
Key words: Episodic ataxia, KCNA1, myokymia, potassium channelopathy, missense mutation
|