A novel sodium channel mutation (Val783Ile) may be responsible for hyperkalemic periodic paralysis and associated cardiac dysrhythmia in a single patient.
May link novel Val783Ile to hyperkalemic periodic paralysis with dysrhythmia in one case; hypothesis-generating, requires validation before clinical or research adoption.
A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val783Ile) in the adult skeletal muscle sodium channel gene was detected. Although lack of available family members precluded rigorous genetic tests, the sodium channel change may be responsible for HyperPP in this patient and could also be responsible for the associated cardiac dysrhythmia.
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Baquero et al. (1995) studied this question.
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