A Novel Variant in the Cacna1s Gene Associated with Hypokalemic Periodic Paralysis: A Case Report
DOI:
https://doi.org/10.24950/rspmi/CC/153/1/2019Keywords:
Calcium Channels/genetics, Genetic Predisposition to Disease, Hypokalemic Periodic Paralysis, MutationAbstract
Hypokalemic periodic paralysis is a rare condition secondary to a genetic abnormality in calcium or sodium voltage
dependent ion channels. It typically presents with muscle
weakness and concomitant low serum concentration of potassium after exercise or emotional distress. We report the
case of a woman who presented with flaccid tetraparesis
and severe hypokalemia in which we have identified a novel probably disease-causing variant in the CACNA1S gene.
After the diagnosis, the patient started acetazolamide treatment, resulting in a reduction in the intensity and number of
episodes. Hypokalemic periodic paralysis is a rare cause
of sudden muscle weakness. It may cause life-threatening
respiratory involvement and cardiac arrhythmias, so all the
clinicians should be aware of this condition in order to recognize it quickly
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