Key result
Whole-genome sequencing reveals no known pathogenic variants in a case of thyrotoxic periodic paralysis.
Why the study?
Thyrotoxic periodic paralysis is rare in Caucasians, can cause lethal cardiac arrhythmias and respiratory failure if overlooked, and warrants identification given its reversibility.
Case Report (n=1)
Thyrotoxic periodic paralysis can occur in Caucasian patients without known genetic predispositions, and rapid potassium replacement can lead to rebound hyperkalemia.
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Thyrotoxic periodic paralysis may occur in Caucasians without known pathogenic variants; leaves open discovery of novel genetic or nongenetic mechanisms.
Heydorn et al. (2023) conducted a case report in Thyrotoxic periodic paralysis (n=1). Whole-genome sequencing was evaluated on Identification of pathogenic variants in genes associated with thyrotoxic periodic paralysis. Whole-genome sequencing of a 19-year-old Caucasian man with thyrotoxic periodic paralysis revealed no pathogenic variants in genes previously associated with the condition.
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